Genetic Markers for Assessing Risk of Developing Bipolar Disorder

ABSTRACT

This document provides methods and materials related to genetic markers of Bipolar Disorder (BD) and Schizophrenia (SZ). For example, methods for using such genetic markers to assess risk of developing BD and/or SZ are provided, as are methods for making a differential diagnosis between BD and SZ.

CLAIM OF PRIORITY

This application is a divisional of U.S. patent application Ser. No. 12/612,521, filed Nov. 4, 2009, which is a continuation of International Patent Application No. PCT/US2009/058459, filed Sep. 25, 2009, which claims the benefit of U.S. Provisional Application Ser. No. 61/100,176, filed on Sep. 25, 2008, which are incorporated by reference in their entirety herein.

FEDERALLY SPONSORED RESEARCH OR DEVELOPMENT

The U.S. Government has certain rights in this invention pursuant to Grant No. R43 MH078437 awarded by the National Institutes of Health.

TECHNICAL HELD

This invention relates to genetic markers of Bipolar Disorder (BD). For example, this document provides methods of using such genetic markers for assessing risk of developing BD.

BACKGROUND

The schizophrenia spectrum disorders include schizophrenia (SZ), schizotypal personality disorder (SPD), and schizoaffective disorder (SD). Schizophrenia (SZ) is considered a clinical syndrome, and is probably a constellation of several pathologies. Substantial heterogeneity is seen between cases, which is thought to reflect multiple overlapping etiologic factors, including both genetic and environmental contributions. SD is characterized by the presence of affective (depressive or manic) symptoms and schizophrenic symptoms within the same, uninterrupted episode of illness. SPD is characterized by a pervasive pattern of social and interpersonal deficits marked by acute discomfort with, and reduced capacity for, close relationships as well as by cognitive or perceptual distortions and eccentricities of behavior, beginning by early adulthood and present in a variety of contexts.

Bipolar Disorder (BD), which is also known as manic-depression or manic-depressive disorder, is characterized by mood that alternates between two emotional extremes, or poles: the sadness of depression and the euphoria of mania. BD includes the following clinical disorders: Bipolar I disorder, Bipolar II disorder, Bipolar mania, and Bipolar depression.

Both schizophrenia and bipolar disorder can be classified as psychotic disorders. Indeed, BD and SZ are clinical classifications rather than actual diseases. The two diagnoses share many common features, with BD subjects often suffering in particular from extensive delusions similar to those seen in SZ, SZ patients often have substantial affective symptoms such as mania and depression. Indeed, BD and SZ can be considered two ends of a continuum of mental illness, with BD diagnosis focused more on affective symptoms (e.g., mania and depression) and SZ more focus on positive symptoms (e.g., hallucinations). The diagnosis given to a patient often depends on the symptoms presented at time of diagnosis, which may or may not reflect the full extent of that patient's disease.

Differential diagnosis represents a tremendous area of unmet medical need. One area in particular in which this unmet need is evident is choice of medication. Two prime examples are the use of SSRI antidepressants to treat affective symptoms in SZ (which would be counter-indicated in patients with a high BD vs SZ index) and antipsychotic treatment for some BD subjects. Other examples could include the addition of cognitive enhancers for subjects diagnosed with BD but scoring high for diagnosis of SZ vs BD.

Various genes and chromosomes have been implicated in etiology of SZ and BD. Many studies have suggested the presence of one or more important genes relating to SZ and BD on most or all of the autosomes (Williams et al., Hum. Mol. Genet. 8:1729-1739 (1999); Middleton et al. Am. J. Hum. Genet. 74:886-897 (2004); Matsuoka et al., Synapse 62:1-7 (2008); Fallin et al., Am. J. Hum. Genet. 77:918-936 (2005); Sklar et al., Mol. Psychiatry 13:558-569 (2008); Sun et al., Am. J. Med. Genet. B Neuropsychiatr. Genet. (2008); Badner et al., Mol. Psychiatry 7:405-411 (2002); Bennett et al., Mol. Psychiatry 7:189-200 (2002); Cooper-Casey et al., Mol. Psychiatry 10:651-656 (2005); Devlin et al., Mol. Psychiatry 7:689-694 (2002); Fallin et al., Am. J. Hum. Genet. 73:601-611 (2003); Ginns et al., Proc. Natl. Acad. Sci. U.S.A 95:15531-15536 (1998); Jablensky, Mol. Psychiatry (2006); Kirov et al., J. Clin. Invest. 115:1440-1448 (2005); Norton et al., Curr. Opin. Psychiatry 19:158-164 (2006); Owen et al., Mol. Psychiatry 9:14-27 (2004)) However, none of these prior studies have used high resolution genetic association methods to systematically compare genes involved in psychosis, SZ and BD. Neither have any of these studies demonstrated that genetic polymorphisms in the genes defined herein are important, in particular in the genetic etiology of psychosis, or BD.

Due to the severity of these disorders, especially the negative impact of a psychotic episode on a patient, and the diminishing recovery after each psychotic episode, there is a need to more conclusively identify individuals who have or are at risk of developing bipolar disorder (BD) or schizophrenia spectrum disorders in order to, for example, confirm clinical diagnoses, allow for prophylactic therapies, determine optimal therapies, and provide genetic counseling for prospective parents with a personal or family history of the disorder.

SUMMARY

This disclosure provides methods for identifying subjects who have or are at risk of developing psychosis, as well as making a differential diagnosis in subjects suspected of having either bipolar disorder (BD) or a schizophrenia spectrum disorder (SSD), e.g., SZ, based on detecting genetic variants in genes involved in a number of pathways including: glutamate signaling and metabolism, cell adhesion, cytoskeletal architecture, vesicle formation, and trafficking, O-protein coupled receptors, carrier proteins and transporters, cell cycle modulators, neuronal development, calcium/calmodulin signaling, neuropeptide signaling, and several additional genes identified by virtue of their interaction with genes in high impact pathways and their expression in the central nervous system. This disclosure also provides methods and materials relating to determining the genetic risk of developing BD. For example, the allelic and genotypic variants identified as described herein can be used for assessing genetic risk of BD or for making a differential diagnosis between BD and SZ. Specifically, the invention includes methods based on evaluation of SNPs for genes relating to psychosis or BD.

In one aspect, this document features methods for making a differential diagnosis between bipolar disorder (BD) and schizophrenia (SZ) in a human subject. The methods can include determining the identity of at least one allele of a single nucleotide polymorphism (SNP) listed in Table 1 and comparing the identity of the allele in the subject with a reference allele, wherein the reference allele is either an allele associated with BD (OR>1) or an allele associated with SZ (OR<1); and wherein the presence of an allele in the subject that is the same as a reference allele that is associated with BD indicates that the subject has an increased risk of developing BD, and the presence of an allele in the subject that is the same as a reference allele that is associated with SZ indicates that the subject has an increased risk of developing SZ. The SNP can be selected from the group consisting of SEQ ID NO:2701, 154, 2409, 371, 378, 515, 509, 2878, 576, and 957.

In another aspect, this document features methods for diagnosing, or determining risk of developing, psychosis, e.g., psychosis associated with bipolar disorder (BD) or schizophrenia (SZ), in a human subject. The methods can include determining the identity of at least one allele of a SNP listed in Table 2 and comparing the identity of the allele in the subject with a reference allele, wherein the reference allele is associated with psychosis; and wherein the presence of an allele in the subject that the same as the reference allele indicates that the subject has psychosis or has an increased risk of developing psychosis. The SNP can be selected from the group consisting of SEQ ID NOs: 906, 2591, 1285, 904, 951, 50, 1127, 112, and 268. Determining the identity of an allele can include obtaining a sample comprising DNA from the subject, and determining identity of the nucleotide at the polymorphic site. Determining the identity of the nucleotide can include contacting the sample with a probe specific for a selected allele of the polymorphism. Determining also can include detecting the formation of complexes between the probe and the selected allele of the polymorphism, wherein the formation of complexes between the probe and the test marker indicates the presence of the selected allele in the sample. Determining the identity of an allele can comprise determining the identity of the nucleotide at position 31 of one of SEQ ID NOs: 1-3141.

The subject can be a patient (i.e., a human patient) having or suspected of having BD or SZ. The subject can have one or more risk factors associated with BD or SZ. The risk factors associated with BD or SZ can include one or more of: a relative afflicted with BD or SZ; and a genetically based phenotypic trait associated with risk for a BD or SZ. The subject can have exhibited or presently be exhibiting symptoms of psychosis. The methods can further include selecting or excluding a subject for enrollment in a clinical trial based on the identity of the allele. The methods can further include stratifying a subject population for analysis of a clinical trial based on the identity of the allele in the subjects. The methods can further include con a diagnosis of a SZ or BD using psychometric instruments. The methods can further comprise selecting a treatment for BD if the allele in the subject is the same as a reference allele in a subject who has BD, or selecting a treatment for SZ if an allele in the subject is the same as a reference allele in a subject who has SZ. The methods can further include administering the selected treatment to the subject. In some embodiments, the treatment is a standard treatment for BD or SZ, e.g., a pharmaceutical treatment or psychotherapy.

The methods can further include recording the identity of the allele in a tangible medium. The tangible medium can comprise a computer-readable disk, a solid state memory device, or an optical storage device.

Unless otherwise defined, all technical and scientific terms used herein have the same meaning as commonly understood by one of ordinary skill in the art to which this invention pertains. Although methods and materials similar or equivalent to those described herein can be used to practice the invention, suitable methods and materials are described below. All publications, patent applications, patents, and other references mentioned herein are incorporated by reference in their entirety. In case of conflict, the present specification, including definitions, will control. In addition, the materials, methods, and examples are illustrative only and not intended to be limiting.

The details of one or more embodiments of the invention are set forth in the accompanying drawings and the description below. Other features, objects, and advantages of is the invention will be apparent from the description and drawings, and from the claims.

DETAILED DESCRIPTION

This document provides methods for assessing genetic risk for developing bipolar disorder and/or schizophrenia (SZ) based on evaluation of single nucleotide polymorphisms (SNPs). As described herein, bioinformatic and genetic analyses provided evidence of association of the disclosed SNPs and genotypes with these disorders. Specific allelic and genotypic variants identified herein can be used to assess genetic risk and to assist with differential diagnosis.

DEFINITIONS

As used herein, an “allele” is one of a pair or series of genetic variants of a polymorphism at a specific genomic location. A “BD risk allele” is an allele that is associated with increased risk of developing BD. A “BD allele” is an allele that is statistically more often associated with BD than with SZ in patients with psychosis. An “SZ allele” is an allele that is statistically more often associated with SZ than with BD in patients with psychosis. For example, using Table 1, Those SNPs that are high (OR>1) are BD alleles by this definition. Those that are low (OR<1) would be SZ alleles by this definition

As used herein, “genotype” refers to the diploid combination of alleles for a given genetic polymorphism. A homozygous subject carries two copies of the same allele and a heterozygous subject carries two different alleles.

As used herein, “genetic model” refers to the manner in which an allele influences risk or differential diagnosis. In a “dominant model” the allele impacts the clinical state to the same extent whether present in one copy or two copies, i.e. whether homozygous or heterozygous. In a “recessive model” the allele impacts the clinical state only when homozygous. In an “additive model” the allele impacts the clinical state in proportion to the number of copies present, i.e. the homozygous state has twice the impact of the heterozygous state.

As used herein, a “haplotype” is one or a set of signature genetic changes (polymorphisms) that are normally grouped closely together on the DNA strand, and are usually inherited as a group; the polymorphisms are also referred to herein as “markers.” A “haplotype” as used herein is information regarding the presence or absence of one or more genetic markers in a given chromosomal region in a subject. A haplotype can consist of a variety of genetic markers, including indels (insertions or deletions of the DNA at particular locations on the chromosome); single nucleotide polymorphisms (SNPs) in which a particular nucleotide is changed; microsatellites; and minisatellites.

Microsatellites (sometimes referred to as a variable number of tandem repeats or VNTRs) are short segments of DNA that have a repeated sequence, usually about 2 to 5 nucleotides long (e.g., CACACA), that tend to occur in non-coding DNA. Changes in the microsatellites sometimes occur during the genetic recombination of sexual reproduction, increasing or decreasing the number of repeats found at an allele, changing the length of the allele. Microsatellite markers are stable, polymorphic, easily analyzed and occur regularly throughout the genome, making them especially suitable for genetic analysis.

“Copy number variation” (CNV), as used herein, refers to variation from the normal diploid condition for a gene or polymorphism. Individual segments of human chromosomes can be deleted or duplicated such that the subject's two chromosome carry fewer than two copies of the gene or polymorphism (a deletion or deficiency) or two or more copies (a duplication).

“Linkage disequilibrium” refers to when the observed frequencies of haplotypes in a population does not agree with haplotype frequencies predicted by multiplying together the frequency of individual genetic markers in each haplotype.

The term “chromosome” as used herein refers to a gene carrier of a cell that is derived from chromatin and comprises DNA and protein components (e.g., histones). The conventional internationally recognized individual human genome chromosome numbering identification system is employed herein. The size of an individual chromosome can vary from one type to another with a given multi-chromosomal genome and from one genome to another. In the case of the human genome, the entire DNA mass of a given chromosome is usually greater than about 100,000,000 base pairs. For example, the size of the entire human genome is about 3×10⁹ base pairs.

The term “gene” refers to a DNA sequence in a chromosome that codes for a product (either RNA or its translation product, a polypeptide). A gene contains a coding region and includes regions preceding and following the coding region (termed respectively “leader” and “trailer”). The coding region is comprised of a plurality of coding segments (“exons”) and intervening sequences (“introns”) between individual coding segments.

The term “probe” refers to an oligonucleotide. A probe can be single stranded at the time of hybridization to a target. As used herein, probes include primers, i.e., oligonucleotides that can be used to prime a reaction, e.g., a PCR reaction.

The term “label” or “label containing moiety” refers in a moiety capable of detection, such as a radioactive isotope or group containing same, and nonisotopic labels, such as enzymes, avidin, streptavidin, digoxygenin, luminescent agents, dyes, haptens, and the like. Luminescent agents, depending upon the source of exciting energy, can be classified as radioluminescent, chemiluminescent, bioluminescent, and photoluminescent (including fluorescent and phosphorescent). A probe described herein can be bound, e.g., chemically bound to label-containing moieties or can be suitable to be so bound. The probe can be directly or indirectly labeled.

The term “direct label probe” (or “directly labeled probe”) refers to a nucleic acid probe whose label after hybrid formation with a target is detectable without further reactive processing of hybrid. The term “indirect label probe” (or “indirectly labeled probe”) refers to a nucleic acid probe whose label after hybrid formation with a target is further reacted in subsequent processing with one or more reagents to associate therewith one or more moieties that finally result in a detectable entity.

The terms “target,” “DNA target,” or “DNA target region” refers to a nucleotide sequence that occurs at a specific chromosomal location. Each such sequence or portion is preferably at least partially, single stranded (e.g., denatured) at the time of hybridization. When the target nucleotide sequences are located only in a single region or fraction of a given chromosome, the term “target region” is sometimes used. Targets for hybridization can be derived from specimens which include, but are not limited to, chromosomes or regions of chromosomes in normal, diseased or malignant human cells, either interphase or at any state of meiosis or mitosis, and either extracted or derived from living or postmortem tissues, organs or fluids; germinal cells including sperm and egg cells, or cells from zygotes, fetuses, or embryos, or chorionic or amniotic cells, or cells from any other germinating body; cells grown in vitro, from either long-term or short-term culture, and either normal, immortalized or transformed; inter- or intraspecific hybrids of different types of cells or differentiation states of these cells; individual chromosomes or portions of chromosomes, or translocated, deleted or other damaged chromosomes, isolated by any of a number of means known to those with skill in the art, including libraries of such chromosomes cloned and propagated in prokaryotic or other cloning vectors, or amplified in vitro by means well known to those with skill; or any forensic material, including but not limited to blood, or other samples.

The term “hybrid” refers to the product of a hybridization procedure between a probe and a target.

The term “hybridizing conditions” has general reference to the combinations of conditions that are employable in a given hybridization procedure to produce hybrids, such conditions typically involving controlled temperature, liquid phase, and contact between a probe (or probe composition) and a target. Conveniently and preferably, at least one denaturation step precedes a step wherein a probe or probe composition is contacted with a target. Guidance for performing hybridization reactions can be found in Ausubel et al., Current Protocols in Molecular Biology, John Wiley & Sons, N.Y. (2003), 6.3.1-6.3.6. Aqueous and nonaqueous methods are described in that reference and either can be used. Hybridization conditions referred to herein are a 50% formamide, 2×SSC wash for 10 minutes at 45° C. followed by a 2×SSC wash for 10 minutes at 37° C.

Calculations of “identity” between two sequences can be performed as follows. The sequences are aligned for optimal comparison purposes (e.g., gaps can be introduced in one or both of a first and a second nucleic acid sequence for optimal alignment and non-identical sequences can be disregarded for comparison purposes). The length of a sequence aligned for comparison purposes is at least 30% (e.g., at least 40%, 50%, 60%, 70%, 80%, 90% or 100%) of the length of the reference sequence. The nucleotides at corresponding nucleotide positions are then compared. When a position in the first sequence is occupied by the same nucleotide as the corresponding position in the second sequence, then the molecules are identical at that position. The percent identity between the two sequences is a function of the number of identical positions shared by the sequences, taking into account the number of gaps, and the length of each gap, which need to be introduced for optimal alignment of the two sequences.

The comparison of sequences and determination of percent identity between two sequences can be accomplished using a mathematical algorithm. In some embodiments, the percent identity between two nucleotide sequences is determined using the GAP program in the GCG software package, using a Blossum 62 scoring matrix with a gap penalty of 12, a gap extend penalty of 4, and a frameshift gap penalty of 5.

As used herein, the term “substantially identical” is used to refer to a first nucleotide sequence that contains a sufficient number of identical nucleotides to a second nucleotide sequence such that the first and second nucleotide sequences have similar activities. Nucleotide sequences that are substantially identical are at least 80% (e.g., 85%, 90%, 95%, 97% or more) identical.

The term “nonspecific binding DNA” refers to DNA which is complementary to DNA segments of a probe, which DNA occurs in at least one other position in a genome, outside of a selected chromosomal target region within that genome. An example of nonspecific binding DNA comprises a class of DNA repeated segments whose members commonly occur in more than one chromosome or chromosome region. Such common repetitive segments tend to hybridize to a greater extent than other DNA segments that are present in probe composition.

As used herein, the term “stratification” refers to the creation of a distinction between subjects on the basis of a characteristic or characteristics of the subjects. Generally, in the context of clinical trials, the distinction is used to distinguish responses or effects in different sets of patients distinguished according to the stratification parameters. In some embodiments, stratification includes distinction of subject groups based on the presence or absence of particular alleles or genotypes described herein. The stratification can be performed, e.g., in the course of analysis, or can be used in creation of distinct groups or in other ways.

Methods of Differential Diagnosis (BD Vs SZ) and Evaluation of Risk of Developing BD+SZ

Described herein are a variety of methods for the diagnosis or determination of susceptibility to BD and SZ. “Susceptibility” does not necessarily mean that the subject will develop BD or SZ, but rather that the subject is, in a statistical sense, more likely to develop BD or SZ than an average member of the population (i.e., has an increased risk of developing BD or SZ). As used herein, susceptibility to BD or SZ exists if the subject has an allele or genotype associated with an increased risk of BD or SZ as described herein. Ascertaining whether the subject has such an allele or genotype is included in the concept of diagnosing susceptibility to BD or SZ as used herein. Such determination is useful, for example, for purposes of genetic counseling. Thus, the methods described herein can include obtaining a genotype associated with an increased risk of BD or SZ as described herein for the subject.

Additionally described herein are a variety of methods for the differential diagnosis of BD versus SZ. Differential diagnosis in this context means increased or decreased likelihood of being diagnosed with BD instead of SZ. Differential diagnosis does not necessarily mean that the subject will develop BD, but rather that the subject, in a statistical sense, has an increased or decreased likelihood of being diagnosed with BD instead of SZ. As used herein, differential diagnosis of BD exists if the subject has an allele or genotype associated with an increased or decreased likelihood of being diagnosed with BD versus SZ, as described herein. Ascertaining whether the subject has such an allele or genotype is included in the concept of differential diagnosis for BD and/or SZ as used herein. Such determination is useful, for example, for purposes of genetic counseling or selecting appropriate first line therapy. Thus, the methods described herein can include detecting the presence or identity of an allele or genotype associated with an increased or decreased likelihood of being diagnosed with BD and/or SZ as described herein for the subject. In some embodiments, the subject is exhibiting or has exhibited symptoms associate with psychosis.

As used herein, “determining the identity of an allele” includes obtaining information regarding the identity, presence or absence of one or more specific alleles in a subject. Determining the identity of an allele can, but need not, include obtaining a sample comprising DNA from a subject, and/or assessing the identity, presence or absence of one or more genetic markers in the sample. The individual or organization who determines the identity of the allele need not actually carry out the physical analysis of a sample from a subject; the methods can include using information obtained by analysis of the sample by a third party. Thus the methods can include steps that occur at more than one site. For example, a sample can be obtained from a subject at a first site, such as at a health care provider, or at the subject's home in the case of a self-testing kit. The sample can be analyzed at the same or a second site, e.g., at a laboratory or other testing facility.

Determining the identity of an allele can also include or consist of reviewing a subject's medical history, where the medical history includes information regarding the identity, presence or absence of one or more response alleles in the subject, e.g., results of a genetic test.

In some embodiments, to determine the identity of an allele or presence/absence of an allele or genotype described herein, a biological sample that includes nucleated cells (such as blood, a cheek swab or mouthwash) is prepared and analyzed for the presence or absence of preselected markers. Such diagnoses may be performed by diagnostic laboratories, or, alternatively, diagnostic kits can be manufactured and sold to health care providers or to private individuals for self-diagnosis. Diagnostic or prognostic tests can be performed as described herein or using well known techniques, such as described in U.S. Pat. No. 5,800,998.

Results of these tests, and optionally interpretive information, can be returned to the subject, the health care provider or to a third party payor. The results can be used in a number of ways. The information can be, e.g., communicated to the tested subject, e.g., with a prognosis and optionally interpretive materials that help the subject understand the test results and prognosis. The information can be used, e.g., by a health care provider, to determine whether to administer a specific drug, or whether a subject should be assigned to a specific category, e.g., a category associated with a specific disease endophenotype, or with drug response or non-response. The information can be used, e.g., by a third party payor such as a healthcare payer insurance company or HMO) or other agency, to determine whether or not to reimburse a health care provider for services to the subject, or whether to approve the provision of services to the subject. For example, the healthcare payer may decide to reimburse a health care provider for treatments for BD if the subject has BD or has an increased risk of developing BD. The presence or absence of the allele or genotype in a patient may be ascertained by using any of the methods described herein.

Alleles and Genotypes Associated with BD and SZ, or BD Vs SZ

This document provides methods for assessing genetic risk based on evaluation of single nucleotide polymorphisms (SNPs) for genes relating to risk of developing Bipolar Disorder (BD) or differential diagnosis between BD and SZ. Tables 1-2 and Table A list exemplary SNPs that can be used in the present methods. One of skill in the art will appreciate that additional variants can be identified via TDT using families with multiple affected individuals and verified by Case/Control comparisons, e.g., using the methods and markers described herein. Using the SNP markers described herein, one can determine the alleles, genotypes or haplotypes in these genes relating to diagnosis or genetic risk of developing BD and/or SZ. These alleles and genotypes can then be used to determine risk of developing BD and SZ, or for making a differential diagnosis between BD and SZ. The allelic and genotypic variants thus identified can be used for diagnosis and for assessing genetic risk.

Markers in Linkage Disequilibrium (LD)

Linkage disequilibrium (LD) is a measure of the degree of association between alleles in a population. One of skill in the art will appreciate that alleles involving markers in LD with the polymorphisms described herein can also be used in a similar manner to those described herein. Methods of calculating LD are known in the art (see, e.g., Morton et al., Proc. Natl. Acad. Sci. USA 98(9):5217-21 (2001); Tapper et al., Proc. Natl. Acad. Sci. USA 102(33):11835-11839 (2005); Maniatis et al., Proc. Natl. Acad. Sci. USA 99:2228-2233 (2002)). Thus, in some cases, the methods can include analysis of polymorphisms that are in LD with a polymorphism described herein. Methods are known in the art for identifying such polymorphisms; for example, the International HapMap Project provides a public database that can be used, see hapmap.org, as well as The International HapMap Consortium, Nature 426:789-796 (2003), and The International HapMap Consortium, Nature 437:1299-1320 (2005). Generally, it will be desirable to use a HapMap constructed using data from individuals who share ethnicity with the subject. For example, a HapMap for African Americans would ideally be used to identify markers in LD with an exemplary marker described herein for use in genotyping a subject of African American descent.

Alternatively, methods described herein can include analysis of polymorphisms that show a correlation coefficient (r²) of value ≧0.5 with the markers described herein. Results can be obtained from on line public resources such as HapMap.org on the World Wide Web. The correlation coefficient is a measure of LD, and reflects the degree to which alleles at two loci (for example, two SNPs) occur together, such that an allele at one SNP position can predict the correlated allele at a second SNP position, in the case where r² is >0.5.

Identifying Additional Genetic Markers

In general, genetic markers can be identified using any of a number of methods well known in the art. For example, numerous polymorphisms in the regions described herein are known to exist and are available in public databases, which can be searched using methods and algorithms known in the art. Alternately, polymorphisms can be identified by sequencing either genomic DNA or cDNA in the region in which it is desired to find a polymorphism. According to one approach, primers are designed to amplify such a region, and DNA from a subject is obtained and amplified. The DNA is sequenced, and the sequence (referred to as a “subject sequence” or “test sequence”) is compared with a reference sequence, which can represent the “normal” or “wild type” sequence, or the “affected” sequence. In some embodiments, a reference sequence can be from, for example, the human draft genome sequence, publicly available in various databases, or a sequence deposited in a database such as GenBank. In some embodiments, the reference sequence is a composite of ethnically diverse individuals.

In general, if sequencing reveals a difference between the sequenced region and the reference sequence, a polymorphism has been identified. The fact that a difference in nucleotide sequence is identified at a particular site that determines that a polymorphism exists at that site. In most instances, particularly in the case of SNPs, only two polymorphic variants will exist at any location. However, in the case of SNPs, up to four variants may exist since there are four naturally occurring nucleotides in DNA. Other polymorphisms, such as insertions and deletions, may have more than four alleles.

The methods described herein can also include determining the presence or absence of other markers known or suspected to be associated with risk of BD and/or SZ, or differentially inherited in BD versus SZ. In some embodiments, the methods include determining the presence or absence of one or more other markers that are or may be associated with BD or SZ, e.g., in one or more genes, e.g., e.g., as described in WO 2009/092032, WO 2009/089120, WO 2009/082743, US2006/0177851, and US2009/0012371 incorporated herein in their entirety. See also, e.g., OMIM entry no. 181500 (SCZD).

Methods of Determining the Identity of an Allele or Obtaining a Genotype

The methods described herein include determining the identity, presence or absence of alleles or genotypes associated with diagnosis or risk of developing BD and/or SZ, or differentially associated with BD versus SZ. In some embodiments, an association with BD is determined by the statistical likelihood of the presence of an allele or genotype in an individual with BD, e.g., an unrelated individual or a first or second-degree relation of the subject, and optionally the statistical likelihood of the absence of the same allele or genotype in an unaffected reference individual, e.g., an unrelated individual or a first or second-degree relation of the subject. In some embodiments, a differential association with BD versus SZ is determined by the statistical likelihood of the presence of the same genotype in both the subject and an affected reference individual, e.g., an unrelated individual or a first or second-degree relation of the subject, and the absence of the genotype in an unaffected reference individual. For example, an association with BD versus SZ is determined by the statistical likelihood of the presence of an allele or genotype in an individual with BD and the statistical likelihood of the absence of the same allele or genotype in a reference individual affected with SZ; likewise, an association with SZ versus BD is determined by the statistical likelihood of the presence of an allele or genotype in an individual with SZ and the statistical likelihood of the absence of the same allele or genotype in a reference individual affected with BD. Thus the methods can include obtaining and analyzing a sample from a suitable reference individual.

Samples that are suitable for use in the methods described herein contain genetic material, e.g., genomic DNA (gDNA). Genomic DNA is typically extracted from biological samples such as blood or mucosal scrapings of the lining of the mouth, but can be extracted from other biological samples including urine or expectorant. The sample itself will typically consist of nucleated cells (e.g., blood or buccal cells) or tissue removed from the subject. The subject can be an adult, child, fetus, or embryo. In some embodiments, the sample is obtained prenatally, either from a fetus or embryo or from the mother (e.g., from fetal or embryonic cells in the maternal circulation). Methods and reagents are known in the art for obtaining, processing, and analyzing samples. In some embodiments, the sample is obtained with the assistance of a health care provider, e.g., to draw blood. In some embodiments, the sample is obtained without the assistance of a health care provider, e.g., where the sample is obtained non-invasively, such as a sample comprising buccal cells that is obtained using a buccal swab or brush, or a mouthwash sample.

In some cases, a biological sample may be processed for DNA isolation. For example, DNA in a cell or tissue sample can be separated from other components of the sample. Cells can be harvested from a biological sample using standard techniques known in the art. For example, cells can be harvested by centrifuging a cell sample and resuspending the pelleted cells. The cells can be resuspended in a buffered solution such as phosphate-buffered saline (PBS). After centrifuging the cell suspension to obtain a cell pellet, the cells can be lysed to extract DNA, e.g., gDNA. See, e.g., Ausubel et al., 2003, supra. The sample can be concentrated and/or purified to isolate DNA. All samples obtained from a subject, including those subjected to any sort of further processing, are considered to be obtained from the subject. Routine methods can be used to extract genomic DNA from a biological sample, including, for example, phenol extraction. Alternatively, genomic DNA can be extracted with kits such as the QIAamp® Tissue Kit (Qiagen, Chatsworth, Calif.) and the Wizard® Genomic DNA purification kit (Promega). Non-limiting examples of sources of samples include urine, blood, and tissue.

The absence or presence of an allele or genotype associated with BD and/or SZ as described herein can be determined using methods known in the art. For example, gel electrophoresis, capillary electrophoresis, size exclusion chromatography, sequencing, and/or arrays can be used to detect the presence or absence of the allele or genotype. Amplification of nucleic acids, where desirable, can be accomplished using methods known in the art, e.g., PCR. In one example, a sample (e.g., a sample comprising genomic DNA), is obtained from a subject. The DNA in the sample is then examined to identify or detect the presence of an allele or genotype as described herein. The allele or genotype can be identified or determined by any method described herein, e.g., by sequencing or by hybridization of the gene in the genomic DNA, RNA, or cDNA to a nucleic acid probe, e.g., a DNA probe (which includes cDNA and oligonucleotide probes) or an RNA probe. The nucleic acid probe can be designed to specifically or preferentially hybridize with a particular polymorphic variant.

Other methods of nucleic acid analysis can include direct manual sequencing (Church and Gilbert, Proc. Natl. Acad. Sci. USA 81:1991-1995 (1988); Sanger et al., Proc. Natl. Acad. Sci. USA 74:5463-5467 (1977); Beavis et al., U.S. Pat. No. 5,288,644); automated fluorescent sequencing; single-stranded conformation polymorphism assays (SSCP) (Schafer et al., Nat. Biotechnol. 15:33-39 (1995)); clamped denaturing gel electrophoresis (CDGE); two-dimensional gel electrophoresis (2DGE or TDGE); conformational sensitive gel electrophoresis (CSGE); denaturing gradient gel electrophoresis (DGGE) (Sheffield et al., Proc. Natl. Acad. Sci. USA 86:232-236 (1989)); denaturing high performance liquid chromatography (DHPLC, Underhill et al., Genome Res. 7:996-1005 (1997)); infrared matrix-assisted laser desorption/ionization (IR-MALDI) mass spectrometry (WO 99/57318); mobility shift analysis (Orita et al., Proc. Natl. Acad. Sci. USA 86:2766-2770 (1989)); restriction enzyme analysis (Flavell et al., Cell 15:25 (1978); Geever et al., Proc. Natl. Acad. Sci. USA 78:5081 (1981)); quantitative real-time PCR (Raca et al., Genet Test 8(4):387-94 (2004)); heteroduplex analysis; chemical mismatch cleavage (CMC) (Cotton et al., Proc. Natl. Acad. Sci. USA 85:4397-4401 (1985)); RNase protection assays (Myers et al., Science 230:1242 (1985)); use of polypeptides that recognize nucleotide mismatches, e.g., E. coli mutS protein; allele-specific PCR, and combinations of such methods. See, e.g., Gerber et al., U.S. Patent Publication No. 2004/0014095 which is incorporated herein by reference in its entirety.

Sequence analysis can also be used to detect specific polymorphic variants. For example, polymorphic variants can be detected by sequencing exons, introns, 5′ untranslated sequences, or 3′ untranslated sequences. A sample comprising DNA or RNA is obtained from the subject. PCR or other appropriate methods can be used to amplify a portion encompassing the polymorphic site, if desired. The sequence is then ascertained, using any standard method, and the presence of a polymorphic variant is determined. Real-time pyrophosphate DNA sequencing is yet another approach to detection of polymorphisms and polymorphic variants (Alderborn et al., Genome Research 10(8):1249-1258 (2000)). Additional methods include, for example, PCR amplification in combination with denaturing high performance liquid chromatography (dHPLC) (Underhill et al., Genome Research 7(10):996-1005 (1997)).

In order to detect polymorphisms and/or polymorphic variants, it will frequently be desirable to amplify a portion of genomic DNA (gDNA) encompassing the polymorphic site. Such regions can be amplified and isolated by PCR using oligonucleotide primers designed based on genomic and/or cDNA sequences that flank the site. PCR refers to procedures in which target nucleic acid (e.g., genomic DNA) is amplified in a manner similar to that described in U.S. Pat. No. 4,683,195, and subsequent modifications of the procedure described therein. Generally, sequence information from the ends of the region of interest or beyond are used to design oligonucleotide primers that are identical or similar in sequence to opposite strands of a potential template to be amplified. See e.g., PCR Primer: A Laboratory Manual, Dieffenbach and Dveksler, (Eds.); McPherson et al., PCR Basics: From Background to Bench (Springer Verlag, 2000); Mattila et al., Nucleic Acids Res., 19:4967 (1991); Eckert et al., PCR Methods and Applications, 1:17 (1991); PCR (eds. McPherson et al., Press, Oxford); and U.S. Pat. No. 4,683,202. Other amplification methods that may be employed include the ligase chain reaction (LCR) (Wu and Wallace, Genomics 4:560 (1989), Landegren et al., Science 241:1077 (1988), transcription amplification (Kwoh et al., Proc. Natl. Acad. Sci. USA 86:1173 (1989)), self-sustained sequence replication (Guatelli et al., Proc. Nat. Acad. Sci. USA 87:1874 (1990)), and nucleic acid based sequence amplification (NASBA). Guidelines for selecting primers for PCR amplification are well known in the art. See, e.g., McPherson et al., PCR Basics: From Background to Bench, Springer-Verlag, 2000. A variety of computer programs for designing primers are available, e.g., ‘Oligo’ (National Biosciences, Inc, Plymouth Minn.), MacVector (Kodak/IBI), and the GCG suite of sequence analysis programs (Genetics Computer Group, Madison, Wis. 53711).

In some cases, PCR conditions and primers can be developed that amplify a product only when the variant allele is present or only when the wild type allele is present (MSPCR or allele-specific PCR). For example, patient DNA and a control can be amplified separately using either a wild type primer or a primer specific for the variant allele. Each set of reactions is then examined for the presence of amplification products using standard methods to visualize the DNA. For example, the reactions can be electrophoresed through an agarose gel and the DNA visualized by staining with ethidium bromide or other DNA intercalating dye. In DNA samples from heterozygous patients, reaction products would be detected in each reaction.

Real-time quantitative PCR can also be used to determine copy number. Quantitative PCR permits both detection and quantification of specific DNA sequence in a sample as an absolute number of copies or as a relative amount when normalized to DNA input or other normalizing genes. A key feature of quantitative PCR is that the amplified DNA product is quantified in real-time as it accumulates in the reaction after each amplification cycle. Methods of quantification can include the use of fluorescent dyes that intercalate with double-stranded DNA, and modified DNA oligonucleotide probes that fluoresce when hybridized with a complementary DNA. Methods of quantification can include determining the intensity of fluorescence for fluorescently tagged molecular probes attached to a solid surface such as a microarray.

The first report of extensive copy number variation (CNV) in the human genome used intensity analysis of microarray data to document numerous examples of genes that vary in copy number (Redon et al., Nature 444(7118):444-54 (2006)). Subsequent studies have shown that certain copy number variants are associated with complex genetic diseases such as SZ (Walsh et al., Science 320(5875):539-43 (2008); and Stone et al., Nature 455(7210):23741 (2008)).

In some embodiments, a peptide nucleic acid (PNA) probe can be used instead of a nucleic acid probe in the hybridization methods described above. PNA is a DNA mimetic with a peptide-like, inorganic backbone, e.g., N-(2-aminoethyl)glycine units, with an organic base (A, G, C, T or U) attached to the glycine nitrogen via a methylene carbonyl linker (see, e.g., Nielsen et al., Bioconjugate Chemistry, The American Chemical Society, 5:1 (1994)). The PNA probe can be designed to specifically hybridize to a nucleic acid comprising a polymorphic variant conferring susceptibility to or indicative of the presence of SZ.

In some cases, allele-specific oligonucleotides can also be used to detect the presence of a polymorphic variant. For example, polymorphic variants can be detected by performing allele-specific hybridization or allele-specific restriction digests. Allele specific hybridization is an example of a method that can be used to detect sequence variants, including complete genotypes of a subject (e.g., a mammal such as a human). See Stoneking et al., Am. J. Hum. Genet. 48:370-382 (1991); and Prince et al., Genome Res. 11:152-162 (2001). An “allele-specific oligonucleotide” (also referred to herein as an “allele-specific oligonucleotide probe”) is an oligonucleotide that is specific for particular a polymorphism can be prepared using standard methods (see Ausubel et al., Current Protocols in Molecular Biology, supra). Allele-specific oligonucleotide probes typically can be approximately 10-50 base pairs, preferably approximately 15-30 base pairs, that specifically hybridizes to a nucleic acid region that contains a polymorphism. Hybridization conditions are selected such that a nucleic acid probe can specifically bind to the sequence of interest, e.g., the variant nucleic acid sequence. Such hybridizations typically are performed under high stringency as some sequence variants include only a single nucleotide difference. In some cases, dot-blot hybridization of amplified oligonucleotides with allele-specific oligonucleotide (ASO) probes can be performed. See, for example, Saiki et al., Nature (London) 324:163-166 (1986).

In some embodiments, allele-specific restriction digest analysis can be used to detect the existence of a polymorphic variant of a polymorphism, if alternate polymorphic variants of the polymorphism result in the creation or elimination of a restriction site. Allele-specific restriction digests can be performed in the following manner. A sample containing genomic DNA is obtained from the individual and genomic DNA is isolated for analysis. For nucleotide sequence variants that introduce a restriction site, restriction digest with the particular restriction enzyme can differentiate the alleles. In some cases, polymerase chain reaction (PCR) can be used to amplify a region comprising the polymorphic site, and restriction fragment length polymorphism analysis is conducted (see Ausubel et al., Current Protocols in Molecular Biology, supra). The digestion pattern of the relevant DNA fragment indicates the presence or absence of a particular polymorphic variant of the polymorphism and is therefore indicative of the presence or absence of susceptibility to BD and/or SZ. For sequence variants that do not alter a common restriction site, mutagenic primers can be designed that introduce a restriction site when the variant allele is present or when the wild type allele is present. For example, a portion of a nucleic acid can be amplified using the mutagenic primer and a wild type primer, followed by digest with the appropriate restriction endonuclease.

In some embodiments, fluorescence polarization template-directed dye-terminator incorporation (FP-TDI) is used to determine which of multiple polymorphic variants of a polymorphism is present in a subject (Chen et al., Genome Research 9(5):492-498 (1999)). Rather than involving use of allele-specific probes or primers, this method employs primers that terminate adjacent to a polymorphic site, so that extension of the primer by a single nucleotide results in incorporation of a nucleotide complementary to the polymorphic variant at the polymorphic site.

In some cases, DNA containing an amplified portion may be dot-blotted, using standard methods (see Ausubel et al., Current Protocols in Molecular Biology, supra), and the blot contacted with the oligonucleotide probe. The presence of specific hybridization of the probe to the DNA is then detected. Specific hybridization of an allele-specific oligonucleotide probe (specific for a polymorphic variant indicative of susceptibility to BD and/or SZ) to DNA from the subject is indicative of susceptibility to BD and/or SZ.

The methods can include determining the genotype of a subject with respect to both copies of the polymorphic site present in the genome. For example, the complete genotype may be characterized as −/−, as −/+, or as +/+, where a minus sign indicates the presence of the reference or wild type sequence at the polymorphic site, and the plus sign indicates the presence of a polymorphic variant other than the reference sequence. If multiple polymorphic variants exist at a site, this can be appropriately indicated by specifying which ones are present in the subject. Any of the detection means described herein can be used to determine the genotype of a subject with respect to one or both copies of the polymorphism present in the subject's genome.

Methods of nucleic acid analysis to detect polymorphisms and/or polymorphic variants can include, e.g., microarray analysis. Hybridization methods, such as Southern analysis, Northern analysis, or in situ hybridizations, can also be used (see Ausubel et al., Current Protocols in Molecular Biology, eds., John Wiley & Sons (2003)). To detect microdeletions, fluorescence in situ hybridization (FISH) using DNA probes that are directed to a putatively deleted region in a chromosome can be used. For example, probes that detect all or a part of a microsatellite marker can be used to detect microdeletions in the region that contains that marker.

In some embodiments, it is desirable to employ methods that can detect the presence of multiple polymorphisms (e.g., polymorphic variants at a plurality of polymorphic sites) in parallel or substantially simultaneously. Oligonucleotide arrays represent one suitable means for doing so. Other methods, including methods in which reactions (e.g., amplification, hybridization) are performed in individual vessels, e.g., within individual wells of a multi-well plate or other vessel may also be performed so as to detect the presence of multiple polymorphic variants (e.g., polymorphic variants at a plurality of polymorphic sites) in parallel or substantially simultaneously according to certain embodiments.

Nucleic acid probes can be used to detect and/or quantify the presence of a particular target nucleic acid sequence within a sample of nucleic acid sequences, e.g., as hybridization probes, or to amplify a particular target sequence within a sample, e.g., as a primer. Probes have a complimentary nucleic acid sequence that selectively hybridizes to the target nucleic acid sequence. In order for a probe to hybridize to a target sequence, the hybridization probe must have sufficient identity with the target sequence, i.e., at least 70% (e.g., 80%, 90%, 95%, 98% or more) identity to the target sequence. The probe sequence must also be sufficiently long so that the probe exhibits selectivity for the target sequence over non-target sequences. For example, the probe will be at least 20 (e.g., 25, 30, 35, 50, 100, 200, 300, 400, 500, 600, 700, 800, 900 or more) nucleotides in length. In some embodiments, the probes are not more than 30, 50, 100, 200, 300, 500, 750, or 1000 nucleotides length. Probes are typically about 20 to about 1×10⁶ nucleotides in length. Probes include primers, which generally refers to a single-stranded oligonucleotide probe that can act as a point of initiation of template-directed DNA synthesis using methods such as PCR (polymerase chain reaction), LCR (ligase chain reaction), etc., for amplification of a target sequence.

The probe can be a test probe such as a probe that can be used to detect polymorphisms in a region described herein (e.g., polymorphisms as described herein). For example, the probe can hybridize to an allele described herein. In some embodiments, the probe can bind to another marker sequence associated with SZ, SPD, SD or BD as described herein.

Control probes can also be used. For example, a probe that binds a less variable sequence, e.g., repetitive DNA associated with a centromere of a chromosome, can be used as a control. Probes that hybridize with various centromeric DNA and locus-specific DNA are available commercially, for example, from Vysis, Inc. (Downers Grove, Ill.), Molecular Probes, Inc. (Eugene, Oreg.), or from Cytocell (Oxfordshire, UK). Probe sets are available commercially such from Applied Biosystems, e.g., the Assays-on-Demand SNP kits Alternatively, probes can be synthesized, e.g., chemically or in vitro, or made from chromosomal or genomic DNA through standard techniques. For example, sources of DNA that can be used include genomic DNA, cloned DNA sequences, somatic cell hybrids that contain one, or a part of one, human chromosome along with the normal chromosome complement of the host, and chromosomes purified by flow cytometry or microdissection. The region of interest can be isolated through cloning, or by site-specific amplification via the polymerase chain reaction (PCR). See, for example, Nath and Johnson, Biotechnic. Histochem. 73(1):6-22 (1998); Wheeless et al., Cytometry 17:319-326 (1994); and U.S. Pat. No. 5,491,224.

In some embodiments, the probes are labeled, e.g., by direct labeling, with a fluorophore, an organic molecule that fluoresces after absorbing light of lower wavelength/higher energy. A directly labeled fluorophore allows the probe to be visualized without a secondary detection molecule. After covalently attaching a fluorophore to a nucleotide, the nucleotide can be directly incorporated into the probe with standard techniques such as nick translation, random priming, and PCR labeling. Alternatively, deoxycytidine nucleotides within the probe can be transaminated with a linker. The fluorophore then is covalently attached to the transaminated deoxycytidine nucleotides. See, e.g., U.S. Pat. No. 5,491,224.

Fluorophores of different colors can be chosen such that each probe in a set can be distinctly visualized. For example, a combination of the following fluorophores can be used: 7-amino-4-methylcoumarin-3-acetic acid (AMCA), TEXAS RED™ (Molecular Probes, Inc., Eugene, Oreg.), 5-(and-6)-carboxy-X-rhodamine, lissamine rhodamine B, 5-(and-6)-carboxyfluorescein, fluorescein-5-isothiocyanate (FITC), 7-diethylaminocoumarin-3-carboxylic acid, tetramethylrhodamine-5-(and-6)-isothiocyanate, 5-(and-6)-carboxytetramethylrhodamine, 7-hydroxycoumarin-3-carboxylic acid, 6-[fluorescein 5-(and-6)-carboxamido]hexanoic acid, N-(4,4-difluoro-5,7-dimethyl-4-bora-3a,4a diaza-3-indacenepropionic acid, eosin-5-isothiocyanate, erythrosin-5-isothiocyanate, and CASCADE™ blue acetylazide (Molecular Probes, Inc., Eugene, Oreg.). Fluorescently labeled probes can be viewed with a fluorescence microscope and an appropriate filter for each fluorophore, or by using dual or triple band-pass filter sets to observe multiple fluorophores. See, for example, U.S. Pat. No. 5,776,688. Alternatively, techniques such as flow cytometry can be used to examine the hybridization pattern of the probes. Fluorescence-based arrays are also known in the art.

In other embodiments, the probes can be indirectly labeled with, e.g., biotin or digoxygenin, or labeled with radioactive isotopes such as ³²P and ³H. For example, a probe indirectly labeled with biotin can be detected by avidin conjugated to a detectable marker. For example, avidin can be conjugated to an enzymatic marker such as alkaline phosphatase or horseradish peroxidase. Enzymatic markers can be detected in standard colorimetric reactions using a substrate and/or a catalyst for the enzyme. Catalysts for alkaline phosphatase include 5-bromo-4-chloro-3-indolylphosphate and nitro blue tetrazolium. Diaminobenzoate can be used as a catalyst for horseradish peroxidase.

In another aspect, this document features arrays that include a substrate having a plurality of addressable areas, and methods of using them. At least one area of the plurality includes a nucleic acid probe that binds specifically to a sequence comprising a polymorphism listed in Tables 1-2 or Table A, and can be used to detect the absence or presence of said polymorphism, e.g., one or more SNPs, microsatellites, minisatellites, or indels, as described herein, to determine or identify an allele or genotype. For example, the array can include one or more nucleic acid probes that can be used to detect a polymorphism listed in Tables 1-2 or Table A. In some embodiments, the array further includes at least one area that includes a nucleic acid probe that can be used to specifically detect another marker associated with BD and/or SZ as described herein. In some embodiments, the probes are nucleic acid capture probes.

Generally, microarray hybridization is performed by hybridizing a nucleic acid of interest (e.g., a nucleic acid encompassing a polymorphic site) with the array and detecting hybridization using nucleic acid probes. In some cases, the nucleic acid of interest is amplified prior to hybridization. Hybridization and detecting are generally carried out according to standard methods. See, e.g., Published PCT Application Nos. WO 92/10092 and WO 95/11995, and U.S. Pat. No. 5,424,186. For example, the array can be scanned to determine the position on the array to which the nucleic acid hybridizes. The hybridization data obtained from the scan is typically in the form of fluorescence intensities as a function of location on the array.

Arrays can be formed on substrates fabricated with materials such as paper, glass, plastic (e.g., polypropylene, nylon, or polystyrene), polyacrylamide, nitrocellulose, silicon, optical fiber, or any other suitable solid or semisolid support, and can be configured in a planar (e.g., glass plates, silicon chips) or three dimensional (e.g., pins, fibers, beads, particles, microtiter wells, capillaries) configuration. Methods for generating arrays are known in the art and include, e.g., photolithographic methods (see, e.g., U.S. Pat. Nos. 5,143,854; 5,510,270; and 5,527,681), mechanical methods (e.g., directed-flow methods as described in U.S. Pat. No. 5,384,261), pin-based methods (e.g., as described in U.S. Pat. No. 5,288,514), and bead-based techniques (e.g., as described in PCT US/93/04145). The array typically includes oligonucleotide hybridization probes capable of specifically hybridizing to different polymorphic variants. Oligonucleotide probes that exhibit differential or selective binding to polymorphic sites may readily be designed by one of ordinary skill in the art. For example, oligonucleotide that is perfectly complementary to a sequence that encompasses a polymorphic site (i.e., a sequence that includes the polymorphic site, within it or at one end) will generally hybridize preferentially to a nucleic acid comprising that sequence, as opposed to a nucleic acid comprising an alternate polymorphic variant.

Oligonucleotide probes forming an array may be attached to a substrate by any number of techniques, including, without limitation, (i) in situ synthesis (e.g., high-density oligonucleotide arrays) using photolithographic techniques; (ii) spotting/printing at medium to low density on glass, nylon or nitrocellulose; (iii) by masking, and (iv) by dot-blotting on a nylon or nitrocellulose hybridization membrane. Oligonucleotides can be immobilized via a linker, including by covalent, ionic, or physical linkage. Linkers for immobilizing nucleic acids and polypeptides, including reversible or cleavable linkers, are known in the art. See, for example, U.S. Pat. No. 5,451,683 and WO98/20019. Alternatively, oligonucleotides can be non-covalently immobilized on a substrate by hybridization to anchors, by means of magnetic beads, or in a fluid phase such as in microtiter wells or capillaries. Immobilized oligonucleotide probes are typically about 20 nucleotides in length, but can vary from about 10 nucleotides to about 1000 nucleotides in length.

Arrays can include multiple detection blocks (i.e., multiple groups of probes designed for detection of particular polymorphisms). Such arrays can be used to analyze multiple different polymorphisms. Detection blocks may be grouped within a single array or in multiple, separate arrays so that varying conditions (e.g., conditions optimized for particular polymorphisms) may be used during the hybridization. For example, it may be desirable to provide for the detection of those polymorphisms that fall within G-C rich stretches of a genomic sequence, separately from those falling in A-T rich segments. General descriptions of using oligonucleotide arrays for detection of polymorphisms can be found, for example, in U.S. Pat. Nos. 5,858,659 and 5,837,832. In addition to oligonucleotide arrays, cDNA arrays may be used similarly in certain embodiments.

The methods described herein can include providing an array as described herein; contacting the array with a sample (e.g., a portion of genomic DNA that includes at least a portion of a human chromosome) and/or optionally, a different portion of genomic DNA (e.g., a portion that includes a different portion of a human chromosome, e.g., including another region associated with BD and/or SZ), and detecting binding of a nucleic acid from the sample to the array. Optionally, the method includes amplifying nucleic acid from the sample, genomic DNA that includes a portion of a human chromosome described herein, and, optionally, a region that includes another region associated with BD and/or SZ, prior to or during contact with the array.

In some aspects, the methods described herein can include using an array that can ascertain differential expression patterns or copy numbers of one or more genes in samples from normal and affected individuals (see, e.g., Redon et al., Nature 444(7118):444-54 (2006)). For example, arrays of probes to a marker described herein can be used to measure polymorphisms between DNA from a subject having BD and/or SZ, and control DNA, e.g., DNA obtained from an individual that does not have BD and/or SZ, and has no risk factors for BD and/or SZ. Since the clones on the array contain sequence tags, their positions on the array are accurately known relative to the genomic sequence. Different hybridization patterns between DNA from an individual afflicted with BD and/or SZ and DNA from a normal individual at areas in the array corresponding to markers as described herein, and, optionally, one or more other regions associated with BD and/or SZ, are indicative of a risk of BD and/or SZ. Methods for array production, hybridization, and analysis are described, e.g., in Snijders et al., Nat. Genetics 29:263-264 (2001); Klein et al., Proc. Natl Acad. Sci. USA 96:4494-4499 (1999); Albertson et al., Breast cancer Research and Treatment 78:289-298 (2003); and Snijders et al., “BAC microarray based comparative genomic hybridization,” in: Zhao et al. (eds), Bacterial Artificial chromosomes: Methods and Protocols, Methods in Molecular Biology, Humana Press, 2002.

In another aspect, this document provides methods of determining the absence or presence of an allele or genotype associated with BD and/or SZ as described herein, using an array described above. The methods can include providing a two dimensional array having a plurality of addresses, each address of the plurality being positionally distinguishable from each other address of the plurality having a unique nucleic acid capture probe, contacting the array with a first sample from a test subject who is suspected of having or being at risk for BD and/or SZ, and comparing the binding of the first sample with one or more references, e.g., binding of a sample from a subject who is known to have BD and/or SZ, and/or binding of a sample from a subject who is unaffected, e.g., a control sample from a subject who neither has, nor has any risk factors for BD and/or SZ. In some embodiments, the methods can include contacting the array with a second sample from a subject who has BD and/or SZ; and comparing the binding of the first sample with the binding of the second sample. In some embodiments, the methods can include contacting the array with a third sample from a cell or subject that does not have BD and/or SZ and is not at risk for BD and/or SZ; and comparing the binding of the first sample with the binding of the third sample. In some embodiments, the second and third samples are from first or second-degree relatives of the test subject. In the case of a nucleic acid hybridization, binding with a capture probe at an address of the plurality, can be detected by any method known in the art, e.g., by detection of a signal generated from a label attached to the nucleic acid.

Bipolar Disorder and Schizophrenia Spectrum Disorders

The methods described herein can be used to determine a differential diagnosis based on the presence or absence of an allele or genotype associated with BD or with a schizophrenia spectrum disorder (SSD). The SSDs include schizophrenia (SZ), schizotypal personality disorder (SPD), and schizoaffective disorder (SD). Methods for diagnosing SSDs are known in the art, see, e.g., the Diagnostic and Statistical Manual of Mental Disorders—Fourth Edition (“DSM-IV”). See also, e.g., WO 2009/092032, incorporated herein by reference.

Bipolar Disorder, which is also known as manic-depression or manic-depressive disorder, is characterized by mood that alternates between two emotional extremes, or poles: the sadness of depression and the euphoria of mania (see symptoms of mania below).

People with bipolar disorder experience a wide range of feelings depending on the phase of the illness is present. Between these emotional swings, there are periods when a person's mood is quite normal. During the depressed phase of bipolar illness, the individual will have the same symptoms as those found in major, depressive disorder, and the symptoms can be severe. The individual may have despondent mood, a loss of energy, feelings of worthlessness or guilt, or problems with concentration. Thoughts of suicide are not uncommon. In fact, 10% to 15% of those with bipolar disorder may die by suicide.

During the manic phase, the individual experiences mood that is extremely elevated, expansive, or irritable. Mania can seriously impair one's normal judgment, and the individual may not be able to realize the harm of his or her behavior and may even lose touch with reality. The individual becomes euphoric, ideas come much too fast, and concentration is nearly impossible. The individual's judgment is impaired, and he or she may behave recklessly without a sense of consequence. If a person with bipolar disorder experiences a severe manic episode, he or she may be abusive to children, spouses, or engage in other violent behaviors. When this happens, people often need to be hospitalized for their own safety and for the safety of others. There may also be problems with attendance and performance at school or work, as well as significant difficulties in personal relationships.

There are two types of bipolar disorder. Bipolar I Disorder is diagnosed when a person has had at least one manic or mixed episode, often along with a major depressive episode. It affects equal numbers of men and women in approximately 0.4% to 1.6% of the population. Bipolar II Disorder is diagnosed when a person has had a major depressive episode along with at least one hypomanic episode. It affects more women than men in about 0.5% of the population. Bipolar I disorder affects equal numbers of males and females, however there does appear to be a gender difference in the onset of the illness. Females are more likely to experience a first episode of depression, while males tend to have a first episode that is manic. Women who have bipolar I or II disorder and who have children may be at a higher risk of experiencing bipolar episodes within several months of giving birth. Of adolescents who have recurrent major depressive episodes, about 10%-15% of them will likely develop bipolar disorder. People who have immediate relatives with bipolar I disorder have a higher risk of developing a mood disorder themselves. F or these people, the rate of developing bipolar II disorder or major depression is 4%-24% and bipolar I disorder is 1%-5%.

The cycles of bipolar disorder may be different for each person. Oftentimes a person may first experience depression. Depression may then be replaced with manic symptoms, and the cycle between depression and mania may continue for days, weeks, or months. Between phases of depression and mania some people return to their normal mood. Some others have several periods of either depression or mania. Still others may experience several bouts of depression with infrequent phases of hypomania, or repeated manic episodes with occasional depressive periods. A portion of people, roughly 10% to 20% may only experience mania, while others can have both depression and mania at the same time. For at least 90% of those who have bipolar disorder the condition is recurrent. They will experience future symptoms of the cycles of mania and depression. Approximately 60%-70% of manic episodes may happen just before or after a depressive episode, and this pattern may happen in a particular way for each person. Most people return to a regular level of functioning between episodes, while some (about 20%-30%) may continue to have some problems with mood stability and social and occupational functioning.

Diagnostic Criteria of Bipolar I Disorder

Diagnostic criteria for bipolar I disorder are known in the art. The following is summarized from the Diagnostic and Statistical Manual of Mental Disorders—Fourth Edition.

A. A person experiences a current or recent episode that is manic, hypomanic, mixed, or depressed.

1. To be a manic episode, for at least one week a person's mood must be out of the ordinary and continuously heightened, exaggerated, or irritable.

2. At least three of the following seven symptoms have been significant and enduring. If the mood is only irritable, then four symptoms are required.

-   -   a. Self-esteem is excessive or grandiose.     -   b. The need for sleep is greatly reduced.     -   c. Talks much more than usual.     -   d. Thoughts and ideas are continuous and without a pattern or         focus.     -   e. Easily distracted by unimportant things.     -   f. An increase in purposeful activity or productivity, or         behaving and feeling agitated.     -   g. Reckless participation in enjoyable activities that create a         high risk for negative consequences (e.g., extensive spending         sprees, sexual promiscuity).

3. The person's symptoms do not indicate a mixed episode.

4. The person's symptoms are a cause of great distress or difficulty in functioning at home, work, or other important areas. Or, the symptoms require the person to be hospitalized to protect the person from harming himself/herself or others. Or, the symptoms include psychotic features (hallucinations, delusions).

5. The person's symptoms are not caused by substance use (e.g., alcohol, drugs, medication), or a medical disorder.

B. Unless this is a first single manic episode there has been at least one manic, mixed, hypomanic, or depressive episode.

1. For a major depressive episode a person must have experienced at least five of the nine symptoms below for the same two weeks or more, for most of the time almost every day, and this is a change from his/her prior level of functioning. One of the symptoms must be either (a) depressed mood, or (b) loss of interest.

-   -   a. Depressed mood. For children and adolescents, this may be         irritable mood.     -   b. A significantly reduced level of interest or pleasure in most         or all activities.     -   c. A considerable loss or gain of weight (e.g., 5% or more         change of weight in a month when not dieting). This ma also be         an increase or decrease in appetite. For children, they may not         gain an expected amount of weight.     -   d. Difficulty falling or staying asleep (insomnia), or sleeping         more than usual (hypersomnia).     -   e. Behavior that is agitated or slowed down. Others should be         able to observe this.     -   f. Feeling fatigued, or diminished energy.     -   g. Thoughts of worthlessness or extreme guilt (not about being         ill).     -   h. Ability to think, concentrate, or make decisions is reduced.     -   i. Frequent thoughts of death or suicide (with or without a         specific plan), or attempt of suicide.

2. The persons' symptoms do not indicate a mixed episode.

3. The person's symptoms are a cause of great distress or difficulty in functioning at home, work, or other important areas.

4. The person's symptoms are not caused by substance use (e.g., alcohol, drugs, medication), or a medical disorder.

5. The person's symptoms are not due to normal grief or bereavement over the death of a loved one, they continue for more than two months, or they include great difficulty in functioning, frequent thoughts of worthlessness, thoughts of suicide, symptoms that are psychotic, or behavior that is slowed down (psychomotor retardation).

C. Another disorder does not better explain the episode.

Diagnostic Criteria of Bipolar II Disorder

Diagnostic criteria for bipolar II disorder are known in the art. The following is summarized from the Diagnostic and Statistical Manual of Mental Disorders—Fourth Edition.

A. The person currently has, or in the past has had at least one major depressive episode:

1. For a major depressive episode a person must have experienced at least five of the nine symptoms below for the same two weeks or more, for most of the time almost every day, and this is a change from his/her prior level of functioning. One of the symptoms must be either (a) depressed mood, or (b) loss of interest.

-   -   a. Depressed mood. For children and adolescents, this may be         irritable mood.     -   b. A significantly reduced level of interest or pleasure in most         or all activities.     -   c. A considerable loss or gain of weight (e.g., 5% or more         change of weight in a month when not dieting). This may also be         an increase or decrease in appetite. For children, they may not         gain an expected amount of weight.     -   d. Difficulty falling or staying asleep (insomnia), or sleeping         more than usual (hypersomnia).     -   e. Behavior that is agitated or slowed down. Others should be         able to observe this.     -   f. Feeling fatigued, or diminished energy.     -   g. Thoughts of worthlessness or extreme guilt (not about being         ill).     -   h. Ability to think, concentrate, or make decisions is reduced.     -   i. Frequent thoughts of death or suicide (with or without a         specific plan), or attempt of suicide.

2. The persons' symptoms do not indicate a mixed episode.

3. The person's symptoms are a cause of great distress or difficulty in functioning at home, work, or other important areas.

4. The person's symptoms are not caused by substance use (e.g., alcohol, drugs, medication), or a medical disorder.

5. The person's symptoms are not due to normal grief or bereavement over the death of a loved one, they continue for more than two months, or they include great difficulty in functioning, frequent thoughts of worthlessness, thoughts of suicide, symptoms that are psychotic, or behavior that is slowed down (psychomotor retardation),

B. The person currently has, or in the past has had at least one hypomanic episode:

1. For a hypomanic episode a persons mood must be out of the ordinary and continuously heightened, exaggerated, or irritable for at least four days.

2. At least three of the following seven symptoms have been significant and enduring. If the mood is only irritable, then four symptoms are required.

-   -   a. Self-esteem is excessive or grandiose.     -   b. The need for sleep is greatly reduced.     -   c. Talks much more than usual.     -   d. Thoughts and ideas are continuous and without a pattern or         focus.     -   e. Easily distracted by unimportant things.     -   f. An increase in purposeful activity or productivity, or         behaving and feeling agitated.     -   g. Reckless participation in enjoyable activities that create a         high risk for negative consequences (e.g., extensive spending         sprees, sexual promiscuity).

3. The episode is a substantial change for the person and uncharacteristic of his or her usual functioning.

4. The changes of functioning and mood can be observed by others.

5. The person's symptoms are NOT severe enough to cause difficulty in functioning at home, work, or other important areas; the symptoms neither require the person to be hospitalized, nor are there any psychotic features.

6. The person's symptoms are not caused by substance use (e.g., alcohol, drugs, medication), or a medical disorder.

C. The person has never experienced a manic or mixed episode. D. Another disorder does not better explain the episode. E. The symptoms are a cause of great distress or difficulty in functioning at home, work, or other important areas.

Communicating Risk Assessment

This document also provides methods and materials to assist medical or research professionals in determining whether or not a subject has or is at risk for developing BD and/or SZ. Medical professionals can be, for example, doctors, nurses, medical laboratory technologists, and pharmacists. Research professionals can be, for example, principle investigators, research technicians, postdoctoral trainees, and graduate students. A professional can be assisted by (1) determining whether specific polymorphic variants are present in a biological sample from a subject, and (2) communicating information about polymorphic variants to that professional.

After information about specific polymorphic variants is reported, a medical professional can take one or more actions that can affect patient care. For example, a medical professional can record information in the patient's medical record regarding the diagnosis or risk of the patient to develop BD and/or SZ. In some cases, a medical professional can record information regarding risk assessment, or otherwise transform the patient's medical record, to reflect the patient's current medical condition. In some cases, a medical professional can review and evaluate a patient's entire medical record and assess multiple treatment strategies for clinical intervention of a patient's condition.

A medical professional can initiate or modify treatment after receiving information regarding a patient's diagnosis of or risk of developing BD and/or SZ, for example. In some cases, a medical professional can recommend a change in therapy. In some cases, a medical professional can enroll a patient in a clinical trial for, by way of example, detecting correlations between an allele or genotype as described herein and any measurable or quantifiable parameter relating to the outcome of the treatment as described above.

A medical professional can communicate information regarding a patient's diagnosis of or risk of developing BD and/or SZ to a patient or a patient's family. In some cases, a medical professional can provide a patient and/or a patient's family with information regarding BD and/or SZ diagnosis and risk assessment information, including treatment options, prognosis, and referrals to specialists. In some cases, a medical professional can provide a copy of a patient's medical records to a specialist.

A research professional can apply information regarding a subject's diagnosis of or risk of developing BD and/or SZ to advance scientific research. For example, a researcher can compile data on wild specific polymorphic variants. In some cases, a research professional can obtain a subject's allele(s) or genotype as described herein to evaluate a subject's enrollment, or continued participation, in a research study or clinical trial. In some cases, a research professional can communicate information regarding a subject's diagnosis of or risk of developing BD and/or SZ to a medical professional. In some cases, a research professional can refer a subject to a medical professional.

Any appropriate method can be used to communicate information to another person (e.g., a professional). For example, information can be given directly or indirectly to a professional. For example, a laboratory technician can input a patient's polymorphic variant allele(s) or genotype as described herein into a computer-based record. In some cases, information is communicated by making an physical alteration to medical or research records. For example, a medical professional can make a permanent notation or flag a medical record for communicating the risk assessment to other medical professionals reviewing the record. In addition, any type of communication can be used to communicate the risk assessment information. For example, mail, e-mail, telephone, and face-to-face interactions can be used. The information also can be communicated to a professional by making that information electronically available to the professional. For example, the information can be communicated to a professional by placing the information on a computer database such that the professional can access the information. In addition, the information can be communicated to a hospital, clinic, or research facility serving as an agent for the professional.

Articles of Manufacture

Also provided herein are articles of manufacture comprising a probe that hybridizes with a region of human chromosome as described herein and can be used to detect a polymorphism described herein. For example, any of the probes for detecting polymorphisms described herein can be combined with packaging material to generate articles of manufacture or kits. The kit can include one or more other elements including: instructions for use; and other reagents such as a label or an agent useful for attaching a label to the probe. Instructions for use can include instructions for diagnostic applications of the probe for making a diagnosis of or assessing risk BD and/or SZ in a method described herein. Other instructions can include instructions for attaching a label to the probe, instructions for performing in situ analysis with the probe, and/or instructions for obtaining a sample to be analyzed from a subject. In some cases, the kit can include a labeled probe that hybridizes to a region of human chromosome as described herein.

The kit can also include one or more additional reference or control probes that hybridize to the same chromosome or another chromosome or portion thereof that can have an abnormality associated with a particular endophenotype. A kit that includes additional probes can further include labels, e.g., one or more of the same or different labels for the probes. In other embodiments, the additional probe or probes provided with the kit can be a labeled probe or probes. When the kit further includes one or more additional probe or probes, the kit can further provide instructions for the use of the additional probe or probes. Kits for use in self-testing can also be provided. Such test kits can include devices and instructions that a subject can use to obtain a biological sample (e.g., buccal cells, blood) without the aid of a health care provider. For example, buccal cells can be obtained using a buccal swab or brush, or using mouthwash.

Kits as provided herein can also include a mailer (e.g., a postage paid envelope or mailing pack) that can be used to return the sample for analysis, e.g., to a laboratory. The kit can include one or more containers for the sample, or the sample can be in a standard blood collection vial. The kit can also include one or more of an informed consent form, a test requisition form, and instructions on how to use the kit in a method described herein. Methods for using such kits are also included herein. One or more of the forms (e.g., the test requisition form) and the container holding the sample can be coded, for example, with a bar code for identifying the subject who provided the sample.

Databases and Reports

Also provided herein are databases that include a list of polymorphisms as described herein, and wherein the list is largely or entirely limited to polymorphisms identified as useful for determining a diagnosis or susceptibility to BD and/or SZ as described herein. The list is stored, e.g., on a fiat file or computer-readable medium. The databases can further include information regarding one or more subjects, e.g., whether a subject is affected or unaffected, clinical information such as endophenotype, age of onset of symptoms, any treatments administered and outcomes (e.g., data relevant to pharmacogenomics, diagnostics or theranostics), and other details, e.g., about the disorder in the subject, or environmental or other genetic factors. The databases can be used to detect correlations between a particular allele or genotype and the information regarding the subject.

The methods described herein can also include the generation of reports, e.g., for use by a patient, care giver, payor, or researcher, that include information regarding a subject's response allele(s), and optionally further information such as treatments administered, treatment history, medical history, predicted response, and actual response. The reports can be recorded in a tangible medium, e.g., a computer-readable disk, a solid state memory device, or an optical storage device.

Engineered Cells

Also provided herein are engineered cells that harbor one or more polymorphism described herein, e.g., one or more polymorphisms associated with BD and/or SZ. Such cells are useful for studying the effect of a polymorphism on physiological function, and for identifying and/or evaluating potential therapeutic agents such as anti-psychotics for the treatment of BD and/or SZ.

As one example, included herein are cells in which one of the various alleles of the genes described herein has been re-created that is associated with an increased risk of BD and/or SZ. Methods are known in the art for generating cells, e.g., by homologous recombination between the endogenous gene and an exogenous DNA molecule introduced into a cell, e.g., a cell of an animal. In some cases, the cells can be used to generate transgenic animals using methods known in the art.

The cells are preferably mammalian cells (e.g., neuronal type cells) in which an endogenous gene has been altered to include a polymorphism as described herein. Techniques such as targeted homologous recombinations, can be used to insert the heterologous DNA as described in, e.g., Chappel, U.S. Pat. No. 5,272,071; WO 91/06667, published in May 16, 1991.

EXAMPLES

The invention is further described in the following examples, which do not limit the scope of the invention described in the claims.

Example 1 Genotypes and Alleles that Contribute to Differential Diagnosis of BD Versus SZ

Genotyping and phenotype data were obtained from the Genetic Analysis Information Network (GAIN) Database found at ncbi.nlm.nih.gov through dbGaP, at accession number PHS000017.v1.p1. Genotypes and associated phenotype data for the GAIN Genome-Wide Association Study of Schizophrenia were provided by P. Gejman, and genotyping of these samples was provided through the Genetic Association Information Network (GAIN). Data for 1018 BD cases, 1172 SZ cases and 1378 neurologically normal controls with Caucasian ancestry were evaluated for the GAIN sample.

To determine the significance of the relationship between each allele or genotype and diagnosis of either BD or SZ or BD vs SZ, Golden Helix's SNP and Variation Suite (SVS™) was used to determine a p-value using a trend/correlations test. This test showed the p-value for the dependent variable value having any correlation with or “trend”, which depends on the (possibly PCA-corrected) count value of the genotype. (See below.) For case/control dependent variables, a “case” was considered to have a value of one, and a “control” was considered to have a value of zero. For the genotype predictor variable, the count values were as follows where the minor allele “D” is the allele shown in the table:

-   -   Additive Model: The count of the minor allele D, which is zero         within genotype dd, one within genotype Dd, and two within         genotype DD, where d is the major allele.     -   Dominant Model: The count is one for genotypes DD and Dd and         zero for genotype dd.     -   Recessive Model: The count is one for genotype DD and zero for         genotypes Dd and dd.

Table 1 lists alleles and genotypes influencing differential diagnosis for BD versus SZ. 1018 BD cases and 1170 SZ cases were used to identify these polymorphisms. In brief, each BD case was coded as a 1 (or case) and each SZ case was coded as 0 (or control). The Genetic Association Information Network (GAIN), a partnership between the NIH and private companies, provided genome wide genotyping data for SZ and BP (database of Genotype and Phenotype (dbGaP). National Institutes of Health 2008, available on the NCBI website). Using this coding and genotypes and phenotypes provided by GAIN, case control analysis was performed using various genetic models (recessive, dominant and additive) in Golden Helix's SNP and Variation Suite v 7.0 (SVS™). Table 1 lists the gene, sequence ID, NCBI RS number, test allele, genetic model, odds ratio (OR), and p-value for the comparison. In this example, an OR greater than 1 indicates that the subject has a greater likelihood of a BD diagnosis than a SZ diagnosis. Similarly, an OR less than 1 indicates that the subject has a lower likelihood of a BD diagnosis than a SZ diagnosis.

TABLE 1 Alleles and Genotypes Influencing Likelihood of Bipolar vs. Schizophrenia Diagnoses Gene Seq ID NCBI RS# Allele Model P Odds Ratio KIF1B 1 1555849 G RECESSIVE 0.0168627 0.72 PRDM2 2 876931 C DOMINANT 0.0174243 1.25 RP1-21O18.1 3 12035178 G ADDITIVE 0.0068159 0.81 RP1-21O18.1 4 6663699 G ADDITIVE 0.0217698 0.86 EPHB2 9 309473 T RECESSIVE 0.0303631 1.25 EPHB2 10 309471 G RECESSIVE 0.0174109 1.28 CLIC4 11 3131502 A RECESSIVE 0.0372989 1.38 CLIC4 12 9259 C RECESSIVE 0.0162138 1.43 AGBL4-C1ORF165 19 3122291 T RECESSIVE 0.0056129 0.71 AGBL4-C1ORF165 20 3121512 C RECESSIVE 0.0178332 0.77 AGBL4-C1ORF165 21 3118215 A RECESSIVE 0.0347862 0.78 AGBL4-C1ORF165 22 3118223 G RECESSIVE 0.0270175 0.77 AGBL4-C1ORF165 23 3121273 G RECESSIVE 0.0354423 0.79 AGBL4-C1ORF165 24 3127556 G RECESSIVE 0.0312224 0.78 AGBL4-C1ORF165 25 3121518 A RECESSIVE 0.0227865 0.76 AGBL4-C1ORF165 26 6669433 A RECESSIVE 0.0349819 0.78 AGBL4-C1ORF165 27 7520773 T RECESSIVE 0.0050132 0.68 SLC6A17 41 495959 T ADDITIVE 0.0121511 0.88 SLC16A4 42 10857820 A RECESSIVE 0.0103223 1.32 SLC16A4 43 4498805 G ADDITIVE 0.0243463 0.86 KCNA10 45 3748731 A ADDITIVE 0.0188446 1.16 SLC22A15 52 2488433 T ADDITIVE 0.0096888 1.38 SLC22A15 54 3748743 A ADDITIVE 0.0148878 1.42 CGN 59 1547832 A DOMINANT 0.0148568 0.78 CGN 60 10788807 G DOMINANT 0.0154457 0.78 CGN 62 1418823 T DOMINANT 0.0375351 0.70 ATF6 63 905594 T ADDITIVE 0.0234906 0.86 ATF6 64 2070151 T DOMINANT 0.0499978 0.78 ATF6 65 1553443 C DOMINANT 0.0315353 0.75 ATF6 67 12405111 A ADDITIVE 0.0338357 0.78 ATF6 69 7530997 A DOMINANT 0.0370491 0.77 ATF6 70 12401299 G ADDITIVE 0.0486075 0.82 ATF6 71 16856629 G ADDITIVE 0.0437555 0.80 ATF6 72 7552420 C ADDITIVE 0.0486075 0.82 ATF6 73 12028953 T DOMINANT 0.0489870 0.78 ATF6 74 10918214 G ADDITIVE 0.0491995 0.87 ATF6 75 10918215 G ADDITIVE 0.0491995 0.87 ATF6 76 10753686 A ADDITIVE 0.0491995 0.87 ATF6 77 4657124 G ADDITIVE 0.0409751 0.86 ATF6 78 4657125 C ADDITIVE 0.0491995 0.87 FAM78B 85 12030964 T DOMINANT 0.0345563 0.82 FAM78B 86 10494453 A RECESSIVE 0.0286683 0.67 FAM78B 87 9787101 T RECESSIVE 0.0303146 0.68 FAM78B 88 715421 A RECESSIVE 0.0149449 0.64 FAM78B 89 10800198 C RECESSIVE 0.0175647 0.65 DPT 90 511187 G ADDITIVE 0.0264861 0.88 SEC16B 91 1889981 A ADDITIVE 0.0217462 1.16 CACNA1E 96 199960 T DOMINANT 0.0290569 0.83 CACNA1E 97 3766983 C DOMINANT 0.0438431 0.83 CACNA1E 98 4652675 G DOMINANT 0.0193933 0.82 CACNA1E 99 3845444 G DOMINANT 0.0461923 0.84 CACNA1E 100 3843280 G ADDITIVE 0.0219374 0.84 CACNA1E 101 704329 A RECESSIVE 0.0256218 1.26 CACNA1E 102 546191 T ADDITIVE 0.0134889 0.89 PLA2G4A 121 6662687 A RECESSIVE 0.0323279 0.78 KCNH1 122 1340128 C ADDITIVE 0.0287026 0.87 KCNH1 124 1777256 A ADDITIVE 0.0433741 0.90 KCNH1 128 17267442 T RECESSIVE 0.0218244 0.69 KCNK2 131 10864143 A RECESSIVE 0.0246322 1.39 USH2A 142 17025416 T RECESSIVE 0.0304882 4.73 ESRRG 143 12027901 C DOMINANT 0.0438998 0.81 SLC35F3 145 6688304 A ADDITIVE 0.0075880 0.82 SLC35F3 146 1463501 G ADDITIVE 0.0136990 0.84 SLC35F3 147 1563693 G ADDITIVE 0.0092743 0.83 SLC35F3 148 9435569 T ADDITIVE 0.0075579 0.82 SLC35F3 149 6674291 C ADDITIVE 0.0107637 0.85 SLC35F3 150 480993 T RECESSIVE 0.0463714 0.76 GNG4 151 508208 G ADDITIVE 0.0133270 0.88 GNG4 152 7554426 G DOMINANT 0.0266180 1.22 GNG4 153 7554532 G DOMINANT 0.0336946 1.21 RYR2 154 6684412 C DOMINANT 0.0000058 1.49 RYR2 155 884641 T ADDITIVE 0.0242126 0.84 CHRM3 159 12097526 T DOMINANT 0.0021341 0.77 FMN2 160 897662 T DOMINANT 0.0069240 0.79 FMN2 161 10926188 G DOMINANT 0.0074822 0.79 FMN2 165 10495466 A ADDITIVE 0.0270938 1.34 RGS7 166 2815871 T RECESSIVE 0.0099288 2.30 PLD5 167 2343119 A DOMINANT 0.0046930 1.30 PLD5 168 7542270 G DOMINANT 0.0215593 1.23 C2ORF46 169 11684514 T DOMINANT 0.0205265 1.31 C2ORF46 170 7577544 G DOMINANT 0.0039917 1.38 C2ORF46 171 11677028 G DOMINANT 0.0068260 1.36 DDEF2 172 11686324 T DOMINANT 0.0173768 1.23 DDEF2 173 2356779 A DOMINANT 0.0098345 1.25 DDEF2 174 2666218 G DOMINANT 0.0130585 1.24 DDEF2 175 6431996 C DOMINANT 0.0139985 1.24 DDEF2 176 16866981 G RECESSIVE 0.0219219 1.34 DDEF2 177 17627209 G ADDITIVE 0.0219751 1.15 DDEF2 178 10177742 A RECESSIVE 0.0262729 1.33 DDEF2 179 4610024 G RECESSIVE 0.0393906 1.29 DDEF2 180 17673165 G ADDITIVE 0.0405321 1.14 DDEF2 181 6743955 C RECESSIVE 0.0301506 1.32 DDEF2 182 10172687 T RECESSIVE 0.0296340 1.32 DDEF2 183 6736216 G RECESSIVE 0.0219219 1.34 DDEF2 184 13414373 G RECESSIVE 0.0365651 1.31 DDEF2 185 3811599 C RECESSIVE 0.0310306 1.32 DDEF2 186 4627537 T RECESSIVE 0.0463321 1.29 DDEF2 187 17522163 A ADDITIVE 0.0344479 1.17 DDEF2 188 10181704 T RECESSIVE 0.0350575 1.31 DDEF2 189 4392227 G ADDITIVE 0.0345107 1.17 DDEF2 190 13424953 T RECESSIVE 0.0196379 1.35 DDEF2 191 4599081 G RECESSIVE 0.0294499 2.38 KLHL29 198 6742888 C ADDITIVE 0.0348988 0.88 KLHL29 199 7564616 G ADDITIVE 0.0438533 0.88 KLHL29 200 893430 G ADDITIVE 0.0328464 0.92 KLHL29 201 747345 A ADDITIVE 0.0428263 0.90 KLHL29 202 737565 A ADDITIVE 0.0321218 0.93 KLHL29 203 747344 G ADDITIVE 0.0405452 0.93 KLHL29 204 6726802 A ADDITIVE 0.0093161 0.86 KLHL29 205 7573494 G ADDITIVE 0.0330346 0.91 KLHL29 206 7570872 G ADDITIVE 0.0110811 0.87 KLHL29 207 6544857 C ADDITIVE 0.0109959 0.86 KLHL29 208 10178369 A RECESSIVE 0.0078072 0.59 KLHL29 209 11125053 G RECESSIVE 0.0431439 0.75 ASXL2 211 7599961 C DOMINANT 0.0448173 1.19 ASXL2 212 12987707 A DOMINANT 0.0494199 1.21 CIB4 213 11694917 T RECESSIVE 0.0346178 7.09 BRE 219 10168171 A DOMINANT 0.0052977 0.77 BRE 220 10180107 T DOMINANT 0.0028722 0.76 BRE 221 6738887 C ADDITIVE 0.0484749 0.89 BRE 222 12617913 C DOMINANT 0.0403340 0.83 CRIM1 231 848532 C ADDITIVE 0.0300993 1.10 CRIM1 232 848531 A ADDITIVE 0.0304785 1.10 CRIM1 236 3755197 A RECESSIVE 0.0362269 1.33 PLEKHH2 258 6753626 T DOMINANT 0.0468983 0.80 PLEKHH2 259 7570252 A DOMINANT 0.0433193 0.84 PLEKHH2 260 10165660 C DOMINANT 0.0058234 0.79 C2ORF34 265 1067343 A RECESSIVE 0.0337422 1.46 C2ORF34 269 1067378 A RECESSIVE 0.0419640 1.44 C2ORF34 270 1067375 C RECESSIVE 0.0332333 1.47 C2ORF34 271 1067374 G RECESSIVE 0.0414616 1.45 C2ORF34 276 1067348 T RECESSIVE 0.0405977 1.49 C2ORF34 280 1067402 T RECESSIVE 0.0311285 1.52 C2ORF34 282 698792 A RECESSIVE 0.0404097 1.50 C2ORF34 284 698793 C RECESSIVE 0.0497570 1.41 C2ORF34 299 1377906 G RECESSIVE 0.0180084 1.38 C2ORF34 300 7609431 C RECESSIVE 0.0101792 1.41 C2ORF34 301 4953101 T RECESSIVE 0.0476874 1.32 C2ORF34 302 10188972 T RECESSIVE 0.0489810 1.31 PRKCE 309 4953294 A ADDITIVE 0.0493338 1.10 EPAS1 313 13006131 G RECESSIVE 0.0402451 0.81 PSME4 314 805316 C RECESSIVE 0.0400115 1.40 ACYP2 315 10186140 C RECESSIVE 0.0264937 0.21 CCDC85A 316 13432055 C RECESSIVE 0.0100911 1.50 COMMD1 317 11885927 A RECESSIVE 0.0241086 0.41 AAK1 322 4852272 T DOMINANT 0.0303217 0.83 AAK1 323 2312213 G DOMINANT 0.0460414 0.84 AAK1 324 3821277 G DOMINANT 0.0377504 0.83 AAK1 325 4852868 T DOMINANT 0.0488927 0.84 AAK1 326 6736776 T RECESSIVE 0.0027341 0.61 CTNNA2 328 3795994 A RECESSIVE 0.0330763 1.28 CTNNA2 329 4541274 C RECESSIVE 0.0476626 1.28 NAP5 346 12478698 C DOMINANT 0.0005561 0.74 NAP5 349 7559118 C RECESSIVE 0.0229795 1.70 RAB3GAP1 354 2305594 G ADDITIVE 0.0430480 0.81 LRP1B 359 2171169 A ADDITIVE 0.0158790 0.83 LRP1B 360 3749010 T ADDITIVE 0.0126393 0.78 LRP1B 361 12691587 A RECESSIVE 0.0082097 1.35 LRP1B 362 1525600 T RECESSIVE 0.0231176 1.30 LRP1B 363 1525598 A RECESSIVE 0.0217906 1.30 LRP1B 365 352973 A DOMINANT 0.0320322 0.83 LRP1B 371 2029142 A DOMINANT 0.0001309 0.70 LRP1B 372 4662370 T DOMINANT 0.0232464 0.82 LRP1B 373 1900933 A DOMINANT 0.0011840 0.73 LRP1B 374 10928134 C DOMINANT 0.0174066 0.81 LRP1B 375 7558803 A DOMINANT 0.0005023 0.71 LRP1B 376 1449478 C DOMINANT 0.0005212 0.71 LRP1B 377 13418304 A DOMINANT 0.0299440 0.78 LRP1B 378 11680286 A DOMINANT 0.0001878 0.69 LRP1B 379 1375613 T RECESSIVE 0.0098351 1.30 LRP1B 380 12691633 T DOMINANT 0.0117205 0.76 LRP1B 381 2290140 T DOMINANT 0.0082539 0.79 KYNU 383 351685 C RECESSIVE 0.0264489 2.52 KYNU 384 352892 T RECESSIVE 0.0349849 0.76 ARHGAP15 385 11681284 C RECESSIVE 0.0329951 0.74 ARHGAP15 386 6732131 A RECESSIVE 0.0062475 0.68 ARHGAP15 387 11694505 G RECESSIVE 0.0058840 0.62 ARHGAP15 388 6745691 G RECESSIVE 0.0040745 0.67 ARHGAP15 389 6750323 C RECESSIVE 0.0031136 0.67 ARHGAP15 390 4662343 A RECESSIVE 0.0145068 0.72 ARHGAP15 391 16823036 A DOMINANT 0.0392608 1.20 ARHGAP15 392 16823114 A DOMINANT 0.0470151 1.19 ARHGAP15 393 10928200 T DOMINANT 0.0406542 1.20 KCNJ3 399 12995382 C DOMINANT 0.0487689 1.19 PKP4 400 6437186 T RECESSIVE 0.0342404 7.11 PKP4 401 2528575 A DOMINANT 0.0403036 1.20 PLA2R1 402 6432570 T DOMINANT 0.0103076 0.78 PLA2R1 403 3828324 C DOMINANT 0.0296821 0.81 SCN3A 411 17829626 A RECESSIVE 0.0403437 0.61 SCN2A 413 4667810 G DOMINANT 0.0020017 1.32 SCN2A 414 4667485 C DOMINANT 0.0035559 1.31 SCN2A 415 10181853 T DOMINANT 0.0019952 1.32 SCN1A 416 1824551 C RECESSIVE 0.0282465 0.75 SCN1A 417 1841549 C RECESSIVE 0.0321010 0.64 SCN1A 418 7607543 C RECESSIVE 0.0339116 0.65 SCN1A 419 1461197 A RECESSIVE 0.0386158 0.76 SCN1A 420 1824549 G RECESSIVE 0.0283570 0.75 SCN1A 421 1381105 G RECESSIVE 0.0314593 0.75 SCN9A 422 4303728 A RECESSIVE 0.0169081 0.19 SCN7A 426 3579 A DOMINANT 0.0076308 0.74 SCN7A 427 13397124 T DOMINANT 0.0155437 0.80 SCN7A 428 13029092 T DOMINANT 0.0027898 0.74 SCN7A 429 13017982 C DOMINANT 0.0021760 0.74 SCN7A 430 13022308 A DOMINANT 0.0235060 0.80 SCN7A 431 2593529 C DOMINANT 0.0036914 0.75 PDE1A 433 12693301 G DOMINANT 0.0027198 0.77 PDE1A 434 12988258 A DOMINANT 0.0169140 0.81 PDE1A 435 6736414 T DOMINANT 0.0018837 0.76 PDE1A 436 6718589 T DOMINANT 0.0079529 0.79 PDE1A 437 6719036 A DOMINANT 0.0017120 0.75 PDE1A 439 1430158 C RECESSIVE 0.0462373 0.74 NAB1 441 16832766 A RECESSIVE 0.0084389 <.2 TMEFF2 442 10497725 C DOMINANT 0.0468195 1.19 TMEFF2 443 13004835 G RECESSIVE 0.0187116 1.26 TMEFF2 444 17433337 A DOMINANT 0.0138373 0.79 PARD3B 450 1861763 C RECESSIVE 0.0402838 0.55 PARD3B 451 1019357 G RECESSIVE 0.0103151 0.45 PARD3B 452 236843 G DOMINANT 0.0273232 1.23 NRP2 457 849565 C RECESSIVE 0.0031073 1.92 PIP5K3 458 6746926 A DOMINANT 0.0076853 1.28 ERBB4 459 12992319 A DOMINANT 0.0400316 0.84 IRS1 462 2288587 C DOMINANT 0.0077855 0.67 IRS1 463 16822570 G DOMINANT 0.0077855 0.67 IRS1 464 16822574 T ADDITIVE 0.0429294 0.75 IRS1 465 10205233 T ADDITIVE 0.0131742 0.69 IRS1 466 10181778 T ADDITIVE 0.0014551 0.63 IRS1 467 13414359 G RECESSIVE 0.0185113 0.25 IRS1 468 2396427 G RECESSIVE 0.0434814 0.29 COL4A4 469 1054413 A DOMINANT 0.0093344 0.79 COL4A4 470 10187726 T RECESSIVE 0.0499004 1.22 COL4A4 471 4423583 T DOMINANT 0.0104595 0.79 COL4A4 472 10182307 A DOMINANT 0.0101423 0.79 COL4A4 473 10933165 G DOMINANT 0.0159812 0.80 COL4A4 474 6740108 C DOMINANT 0.0084746 0.78 COL4A4 475 1949807 G DOMINANT 0.0039806 0.77 COL4A4 476 2272198 T DOMINANT 0.0088794 0.79 COL4A4 477 10176882 T DOMINANT 0.0153786 0.80 COL4A4 478 13423714 G DOMINANT 0.0109821 0.79 COL4A4 479 2276593 A DOMINANT 0.0121443 0.79 COL4A4 480 10166736 A DOMINANT 0.0102444 0.79 COL4A4 481 13383070 A DOMINANT 0.0046153 0.77 COL4A3 483 6436672 A DOMINANT 0.0484551 1.26 COL4A3 484 4673188 T DOMINANT 0.0419728 1.25 COL4A3 485 6436674 A DOMINANT 0.0221612 1.31 COL4A3 486 7587228 C DOMINANT 0.0347568 1.26 COL4A3 487 10188531 C DOMINANT 0.0221612 1.31 DNER 488 207671 G RECESSIVE 0.0221000 1.27 DNER 490 7584721 A DOMINANT 0.0306237 1.29 DNER 491 10170426 T DOMINANT 0.0179298 1.30 DNER 492 11695348 A DOMINANT 0.0208254 1.32 ECEL1 493 2678505 G RECESSIVE 0.0264454 0.21 SAG 495 13427703 G DOMINANT 0.0220575 0.78 CENTG2 499 1962550 G ADDITIVE 0.0450037 0.89 CNTN6 501 9840388 C RECESSIVE 0.0244837 0.79 CNTN6 506 3772274 T ADDITIVE 0.0304668 1.20 CNTN6 508 2291101 T ADDITIVE 0.0416503 1.15 CNTN6 509 2291100 C ADDITIVE 0.0003121 0.85 CNTN6 510 17038463 G DOMINANT 0.0381322 1.36 CNTN6 511 3845158 T DOMINANT 0.0285379 1.21 CNTN6 512 3816445 G DOMINANT 0.0364712 1.23 CNTN4 513 11129148 T ADDITIVE 0.0247728 0.89 CNTN4 514 2134356 C ADDITIVE 0.0101235 0.88 CNTN4 515 899540 G DOMINANT 0.0002858 1.42 CNTN4 516 2616585 T DOMINANT 0.0103108 1.27 CNTN4 517 9837469 G DOMINANT 0.0287880 0.81 CNTN4 520 4685542 C ADDITIVE 0.0499516 1.15 CNTN4 521 9837045 A DOMINANT 0.0224299 1.24 CNTN4 522 9843087 T DOMINANT 0.0407710 1.20 ITPR1 526 304014 A DOMINANT 0.0460660 0.84 ITPR1 527 13080068 A RECESSIVE 0.0234785 <.2 ITPR1 528 902985 C RECESSIVE 0.0389873 <.2 ITPR1 529 9818111 A RECESSIVE 0.0236952 <.2 ITPR1 530 3792489 A RECESSIVE 0.0339749 0.74 IRAK2 532 778041 A ADDITIVE 0.0238947 1.14 IRAK2 533 708035 T ADDITIVE 0.0196761 1.14 SLC6A11 535 1485142 C RECESSIVE 0.0092762 0.53 SLC6A1 536 1062246 G DOMINANT 0.0301978 0.83 SLC6A6 537 11713355 A DOMINANT 0.0495407 0.84 FBXL2 539 9880596 C DOMINANT 0.0014283 1.32 CLASP2 540 4679039 C RECESSIVE 0.0114555 0.72 CLASP2 541 6772776 T RECESSIVE 0.0498543 0.78 CLASP2 542 8179967 C ADDITIVE 0.0147798 0.87 CLASP2 543 6807542 G ADDITIVE 0.0266431 0.90 ULK4 553 2293301 G RECESSIVE 0.0428999 3.55 ULK4 554 2293300 C RECESSIVE 0.0248408 3.94 ULK4 555 9838277 G RECESSIVE 0.0430861 3.55 ULK4 556 12493870 C RECESSIVE 0.0430861 3.55 ULK4 557 9820239 T RECESSIVE 0.0397738 1.52 ULK4 559 1386601 G RECESSIVE 0.0459956 1.26 ULK4 560 9832048 A RECESSIVE 0.0411133 1.23 ZNF445 561 9311357 G RECESSIVE 0.0462402 1.33 CAMKV 564 2883059 C RECESSIVE 0.0170760 1.32 SEMA3F 565 2624842 G RECESSIVE 0.0015687 2.76 SEMA3F 566 11711407 A RECESSIVE 0.0018287 1.39 CACNA2D2 567 762895 C RECESSIVE 0.0018308 2.65 CACNA2D2 568 2298955 C RECESSIVE 0.0013825 2.64 CACNA2D2 569 734767 C RECESSIVE 0.0012152 2.67 CACNA2D2 570 2236964 G RECESSIVE 0.0073441 2.31 CACNA2D2 571 916217 T RECESSIVE 0.0100097 2.30 CACNA2D2 572 2236967 A RECESSIVE 0.0236960 2.06 CACNA2D2 573 743757 G RECESSIVE 0.0048367 2.39 CACNA2D2 574 2236975 C RECESSIVE 0.0043747 2.48 CACNA2D2 575 12492113 A RECESSIVE 0.0077768 2.49 CACNA2D2 576 6786523 T RECESSIVE 0.0003940 3.05 CACNA2D2 577 12494849 G RECESSIVE 0.0003948 3.05 CACNA2D2 578 1467913 T RECESSIVE 0.0003948 3.05 CACNA2D2 579 754298 C RECESSIVE 0.0304486 2.10 ERC2 587 11712729 C RECESSIVE 0.0260858 1.43 FHIT 591 11707783 G ADDITIVE 0.0482246 0.82 FHIT 592 6446100 T DOMINANT 0.0035376 0.77 FHIT 593 2736802 A DOMINANT 0.0392613 0.81 FHIT 594 212015 T ADDITIVE 0.0203327 0.81 FHIT 595 13066381 T DOMINANT 0.0083825 0.80 FHIT 596 802778 A ADDITIVE 0.0214893 0.80 FHIT 597 802779 C ADDITIVE 0.0432879 0.82 FHIT 598 17062392 C DOMINANT 0.0186053 1.23 FHIT 601 7650786 T RECESSIVE 0.0483484 1.24 FHIT 602 2142296 G ADDITIVE 0.0252880 0.88 PTPRG 603 1388613 C RECESSIVE 0.0291650 0.66 CADPS 604 304209 G DOMINANT 0.0406227 0.84 SYNPR 612 1812207 A DOMINANT 0.0082602 1.26 SYNPR 613 1505595 A RECESSIVE 0.0459095 1.58 ROBO2 624 4683968 G DOMINANT 0.0446194 1.20 ROBO1 626 329812 C RECESSIVE 0.0164134 1.39 ROBO1 627 162262 T RECESSIVE 0.0084565 1.43 ROBO1 628 1455833 A RECESSIVE 0.0493273 0.73 ROBO1 629 7631406 T RECESSIVE 0.0109668 0.68 ROBO1 630 12486635 G RECESSIVE 0.0408876 0.75 GBE1 632 9821673 A RECESSIVE 0.0292191 0.60 CBLB 635 1443108 T RECESSIVE 0.0351240 0.71 CBLB 636 1550711 G RECESSIVE 0.0404819 0.79 CBLB 637 7638504 C DOMINANT 0.0101111 0.77 CBLB 638 12497428 G DOMINANT 0.0135723 0.77 CBLB 639 9838755 C DOMINANT 0.0122254 0.77 KALRN 644 13321072 C DOMINANT 0.0396312 0.78 KALRN 645 2008839 A DOMINANT 0.0354175 0.77 KALRN 646 1822995 A ADDITIVE 0.0345649 1.24 KALRN 647 10433406 A ADDITIVE 0.0211886 1.24 KALRN 648 2289843 A ADDITIVE 0.0148873 1.26 KALRN 649 3729581 T DOMINANT 0.0351293 1.23 ZXDC 651 1043803 A DOMINANT 0.0333425 0.83 ZXDC 652 1687462 C DOMINANT 0.0266341 0.82 CPNE4 654 9289393 T RECESSIVE 0.0302037 1.26 CPNE4 655 16838031 A ADDITIVE 0.0008895 1.44 CPNE4 656 17297521 G DOMINANT 0.0130424 1.30 CPNE4 657 6806898 T ADDITIVE 0.0109104 1.26 EPHB1 671 3772637 T DOMINANT 0.0037323 1.28 SPSB4 672 9816809 T DOMINANT 0.0476394 1.26 SPSB4 673 11915229 C DOMINANT 0.0496640 1.26 SERPINI1 675 2229697 A DOMINANT 0.0434861 0.80 SLC7A14 676 7648588 A DOMINANT 0.0475929 0.83 TNIK 681 6445006 A RECESSIVE 0.0017287 0.52 PLD1 682 380929 A ADDITIVE 0.0362956 1.11 PLD1 683 397176 T ADDITIVE 0.0318479 1.12 PLD1 684 431196 C ADDITIVE 0.0322453 1.12 PLD1 685 406484 A ADDITIVE 0.0339780 1.11 PLD1 686 405910 T ADDITIVE 0.0195401 1.11 PLD1 687 360413 A ADDITIVE 0.0143963 1.15 PLD1 688 187229 T ADDITIVE 0.0118656 1.17 PLD1 689 181715 A ADDITIVE 0.0093281 1.19 PLD1 690 360401 T ADDITIVE 0.0114614 1.18 NLGN1 703 6779415 A DOMINANT 0.0412066 1.22 NLGN1 705 9815572 A ADDITIVE 0.0466970 1.17 NLGN1 706 7614469 C RECESSIVE 0.0177892 1.62 IL1RAP 710 4140708 G RECESSIVE 0.0320163 1.40 IL1RAP 711 3774001 G RECESSIVE 0.0214074 1.44 IL1RAP 712 3773999 C RECESSIVE 0.0175931 1.45 IL1RAP 713 9990231 C RECESSIVE 0.0048588 1.61 IL1RAP 714 10212103 C RECESSIVE 0.0173303 1.46 IL1RAP 716 10513860 A RECESSIVE 0.0307056 4.72 IL1RAP 717 6444452 T RECESSIVE 0.0167183 5.33 CENTB2 718 2410839 G DOMINANT 0.0200194 1.24 SLC2A9 721 13142273 T RECESSIVE 0.0300284 >5 SLC2A9 722 3733589 T RECESSIVE 0.0300284 >5 SLC2A9 723 16891926 T RECESSIVE 0.0291182 >5 SLC2A9 724 13101772 A RECESSIVE 0.0300161 >5 LDB2 726 1501132 T RECESSIVE 0.0003835 0.33 LDB2 727 6449255 A RECESSIVE 0.0174593 0.55 LDB2 728 1501141 T RECESSIVE 0.0285595 0.57 SOD3 740 12649653 A RECESSIVE 0.0401569 0.73 PI4K2B 741 7654358 G RECESSIVE 0.0424119 1.27 N4BP2 745 1625495 C RECESSIVE 0.0459815 0.56 LIMCH1 754 4610372 G DOMINANT 0.0063646 1.29 LIMCH1 756 4861118 A DOMINANT 0.0464618 1.20 LIMCH1 759 1105886 T DOMINANT 0.0081667 1.26 LIMCH1 760 10026359 T DOMINANT 0.0006576 1.37 LIMCH1 761 13146318 T DOMINANT 0.0093573 1.25 LIMCH1 762 10805090 C DOMINANT 0.0115515 1.24 LIMCH1 763 13113314 T DOMINANT 0.0122260 1.27 LIMCH1 764 2304651 A RECESSIVE 0.0225626 0.13 LIMCH1 765 7674006 C RECESSIVE 0.0388071 <.2 LPHN3 768 950313 C RECESSIVE 0.0124420 0.53 LPHN3 769 1124974 A RECESSIVE 0.0449070 0.62 NPFFR2 772 4574375 G ADDITIVE 0.0358307 0.66 NPFFR2 773 4379029 G ADDITIVE 0.0361672 0.66 NPFFR2 774 7657617 A ADDITIVE 0.0498153 0.68 NPFFR2 775 4276256 T ADDITIVE 0.0490012 0.68 NPFFR2 776 9884712 A ADDITIVE 0.0369620 0.66 NPFFR2 777 10938003 A ADDITIVE 0.0362230 0.66 NPFFR2 778 10033980 C ADDITIVE 0.0358307 0.66 NPFFR2 779 4472109 T ADDITIVE 0.0186600 0.62 NPFFR2 780 11733404 A ADDITIVE 0.0183936 1.15 NPFFR2 781 2137735 A DOMINANT 0.0086958 1.25 NPFFR2 782 7673208 C ADDITIVE 0.0054932 1.18 NPFFR2 783 2365797 T ADDITIVE 0.0207231 1.13 SCARB2 784 17001532 A RECESSIVE 0.0073559 2.31 SCARB2 785 17001533 C RECESSIVE 0.0073559 2.31 SCD5 790 10014168 C RECESSIVE 0.0137208 1.48 GPRIN3 791 6844815 G RECESSIVE 0.0344083 0.77 GPRIN3 794 12498405 T RECESSIVE 0.0326299 1.25 GPRIN3 795 6839114 C RECESSIVE 0.0318186 1.25 GRID2 796 1993030 T RECESSIVE 0.0084799 0.60 UNC5C 811 2220105 G RECESSIVE 0.0256000 1.40 UNC5C 814 13121737 C DOMINANT 0.0140151 0.80 UNC5C 815 13134684 T ADDITIVE 0.0299021 0.90 UNC5C 816 4103379 G DOMINANT 0.0193420 0.80 UNC5C 817 6834411 G DOMINANT 0.0202948 0.80 UNC5C 818 4519799 G RECESSIVE 0.0304882 4.73 ADH1C 820 2851255 G RECESSIVE 0.0281527 0.69 PPP3CA 826 2659524 A RECESSIVE 0.0464225 0.64 PAPSS1 827 9569 A RECESSIVE 0.0327436 0.66 PAPSS1 828 2522421 G RECESSIVE 0.0138444 0.12 PAPSS1 829 2522422 A RECESSIVE 0.0139557 0.12 PAPSS1 830 2522423 T RECESSIVE 0.0088063 0.11 PAPSS1 831 757170 T RECESSIVE 0.0225406 0.13 PAPSS1 832 2726198 G RECESSIVE 0.0141927 0.12 PAPSS1 833 2340454 T RECESSIVE 0.0034834 <.2 PAPSS1 834 2522431 C RECESSIVE 0.0139557 0.12 COL25A1 838 17233629 A DOMINANT 0.0208133 1.22 COL25A1 839 4256292 G DOMINANT 0.0276724 1.21 COL25A1 840 6857726 A ADDITIVE 0.0281793 1.19 ANK2 843 10488905 C DOMINANT 0.0194020 1.25 ANK2 844 11933707 G DOMINANT 0.0068063 1.27 ANK2 845 10488904 A DOMINANT 0.0098931 1.26 ANK2 847 29355 G RECESSIVE 0.0087407 0.32 ANK2 848 29319 A RECESSIVE 0.0059700 0.30 CAMK2D 850 13144613 G RECESSIVE 0.0478159 1.30 MAML3 856 1350036 T DOMINANT 0.0438195 1.22 MAML3 857 2604918 A DOMINANT 0.0139465 0.81 MAML3 858 7698089 T RECESSIVE 0.0079339 1.32 MAML3 859 7656823 A RECESSIVE 0.0089806 1.31 MAML3 860 9996478 G RECESSIVE 0.0093113 1.31 MAML3 861 4863720 C RECESSIVE 0.0079848 1.32 MAML3 863 6858531 T RECESSIVE 0.0498930 2.55 MAML3 864 11947536 C RECESSIVE 0.0078938 >5 INPP4B 866 336407 G ADDITIVE 0.0099862 1.17 INPP4B 867 336402 T DOMINANT 0.0127092 1.25 INPP4B 868 336406 A DOMINANT 0.0083762 1.27 INPP4B 869 336394 G DOMINANT 0.0047041 1.29 INPP4B 870 2636637 T DOMINANT 0.0115457 1.26 INPP4B 871 1219269 T DOMINANT 0.0328045 1.22 INPP4B 872 2636656 G DOMINANT 0.0493955 1.20 INPP4B 873 3102439 G DOMINANT 0.0224570 1.24 INPP4B 874 1907119 G DOMINANT 0.0186256 1.25 INPP4B 875 2172023 T DOMINANT 0.0200937 1.24 INPP4B 876 2636652 C ADDITIVE 0.0109982 1.26 DCLK2 892 11727182 G DOMINANT 0.0322952 0.82 CTSO 894 6832480 T DOMINANT 0.0237369 1.22 CTSO 895 6536124 T DOMINANT 0.0234800 1.22 CTSO 896 10024900 A ADDITIVE 0.0325296 1.14 FSTL5 904 7375994 A RECESSIVE 0.0315844 1.69 TLL1 910 12646597 T RECESSIVE 0.0483031 0.79 TLL1 911 10018177 T RECESSIVE 0.0412312 0.75 PALLD 913 10440507 T DOMINANT 0.0486089 0.84 PALLD 914 6552874 A RECESSIVE 0.0462259 1.35 PALLD 915 10019193 G RECESSIVE 0.0304723 1.38 PALLD 917 2710841 T DOMINANT 0.0321971 0.83 PALLD 918 4280700 T DOMINANT 0.0338394 0.81 PALLD 919 12511925 T DOMINANT 0.0274824 0.81 PALLD 920 13122019 A RECESSIVE 0.0407708 1.24 PALLD 921 1039386 G DOMINANT 0.0385672 0.83 GPM6A 928 2877886 C DOMINANT 0.0050323 0.78 GPM6A 929 1021226 C ADDITIVE 0.0380585 0.92 ENPP6 934 9968325 A ADDITIVE 0.0406970 1.16 CASP3 935 12108497 T DOMINANT 0.0111860 1.24 SLC6A3 936 27061 A ADDITIVE 0.0167413 0.87 SLC6A3 937 250682 G DOMINANT 0.0065105 0.78 SLC6A3 938 250681 A DOMINANT 0.0470083 0.83 SLC6A3 939 393795 A DOMINANT 0.0025052 0.76 SLC6A3 940 2937639 A RECESSIVE 0.0240082 0.76 SEMA5A 941 1806095 T ADDITIVE 0.0352291 1.23 SEMA5A 942 268529 G ADDITIVE 0.0374797 1.11 SEMA5A 945 150631 A ADDITIVE 0.0360142 0.87 CTNND2 946 1024497 A ADDITIVE 0.0281941 0.87 CTNND2 947 13358276 T ADDITIVE 0.0019458 1.19 CTNND2 948 32267 T DOMINANT 0.0124904 0.79 CTNND2 949 32264 T DOMINANT 0.0121132 0.79 CTNND2 952 31888 A ADDITIVE 0.0362142 0.84 CTNND2 953 31892 T ADDITIVE 0.0472033 0.87 CTNND2 954 1458482 T DOMINANT 0.0011190 1.35 CTNND2 955 1458483 T ADDITIVE 0.0014734 0.81 CTNND2 956 6884647 T DOMINANT 0.0010565 1.35 CTNND2 957 1542428 T DOMINANT 0.0004697 1.38 CTNND2 958 1379901 T DOMINANT 0.0007729 1.36 DNAH5 960 13154455 G RECESSIVE 0.0417889 1.27 DNAH5 961 13178616 C RECESSIVE 0.0248029 1.32 BASP1 964 2929726 A ADDITIVE 0.0022115 1.16 BASP1 965 2956564 G ADDITIVE 0.0025794 1.13 BASP1 966 2929710 C ADDITIVE 0.0023921 1.13 CDH10 968 10056470 C RECESSIVE 0.0411944 0.50 SLC1A3 974 2731877 C DOMINANT 0.0461012 0.82 SLC1A3 975 4869680 G DOMINANT 0.0351844 0.83 EGFLAM 976 6873748 C RECESSIVE 0.0284958 0.34 EGFLAM 977 2589804 G RECESSIVE 0.0058548 0.32 EGFLAM 978 2561111 T RECESSIVE 0.0497412 0.43 ITGA1 979 2548494 T ADDITIVE 0.0368558 1.19 ITGA1 980 13189973 T ADDITIVE 0.0394305 1.19 ITGA1 983 10513000 G ADDITIVE 0.0138472 0.89 ITGA1 986 1047481 G DOMINANT 0.0313913 1.22 ITGA2 988 989073 A ADDITIVE 0.0375827 1.12 ITGA2 989 1421937 C ADDITIVE 0.0317117 1.12 ITGA2 994 12521915 G RECESSIVE 0.0343584 1.32 PDE4D 997 12654005 G DOMINANT 0.0381491 0.83 PDE4D 998 929820 T DOMINANT 0.0479056 0.84 PDE4D 999 9292195 T ADDITIVE 0.0404465 1.15 PDE4D 1000 35258 T RECESSIVE 0.0398711 0.77 PDE4D 1001 294492 T RECESSIVE 0.0080393 2.48 PDE4D 1002 295954 G RECESSIVE 0.0337408 1.99 PDE4D 1003 295956 T RECESSIVE 0.0222173 2.12 PDE4D 1004 17380508 C RECESSIVE 0.0499867 0.43 ELOVL7 1007 6449503 A DOMINANT 0.0493368 0.83 ELOVL7 1008 4482855 T DOMINANT 0.0210430 0.80 ELOVL7 1009 4700394 A DOMINANT 0.0224171 0.80 ELOVL7 1010 4700397 A RECESSIVE 0.0271345 1.28 ELOVL7 1011 17332824 G RECESSIVE 0.0297118 1.27 PIK3R1 1012 706713 T RECESSIVE 0.0495010 0.66 TNPO1 1015 34673 G DOMINANT 0.0424093 0.81 TNPO1 1016 155624 T ADDITIVE 0.0188032 0.81 FCHO2 1018 7712673 T ADDITIVE 0.0260252 0.86 FCHO2 1019 716327 T ADDITIVE 0.0227187 0.85 FCHO2 1020 1156398 G ADDITIVE 0.0244766 0.85 FCHO2 1021 1568712 G ADDITIVE 0.0196452 0.85 FCHO2 1022 2277017 C ADDITIVE 0.0379745 0.87 FCHO2 1023 7727222 C ADDITIVE 0.0064707 0.83 PDE8B 1024 1982658 A RECESSIVE 0.0095640 0.66 PDE8B 1025 11953611 C RECESSIVE 0.0030521 1.64 PDE8B 1030 13178853 C RECESSIVE 0.0344304 1.46 PDE8B 1031 398509 G RECESSIVE 0.0406595 1.44 PDE8B 1032 335643 G RECESSIVE 0.0073142 1.63 SCAMP1 1034 10942850 G DOMINANT 0.0484655 0.82 SCAMP1 1035 1529497 T DOMINANT 0.0144309 0.79 SCAMP1 1036 11950060 T DOMINANT 0.0146335 0.79 SCAMP1 1037 11949403 A DOMINANT 0.0191555 0.79 SCAMP1 1038 3952231 G DOMINANT 0.0105949 0.78 SCAMP1 1039 9293749 A DOMINANT 0.0144309 0.79 SCAMP1 1040 10474548 G RECESSIVE 0.0114317 1.29 SCAMP1 1041 10065805 C DOMINANT 0.0169067 0.79 SCAMP1 1042 1050674 G DOMINANT 0.0087343 0.77 SCAMP1 1043 10514138 G DOMINANT 0.0097017 0.77 CMYA5 1050 12514461 G DOMINANT 0.0467297 1.24 MEF2C 1052 454214 G ADDITIVE 0.0081904 1.14 MEF2C 1053 618298 T ADDITIVE 0.0161067 1.14 MEF2C 1054 625970 A ADDITIVE 0.0147143 1.14 MEF2C 1055 681446 A ADDITIVE 0.0103384 1.15 MEF2C 1056 679232 G ADDITIVE 0.0126294 1.15 MEF2C 1057 304153 T DOMINANT 0.0022371 1.30 MEF2C 1058 304152 C DOMINANT 0.0026481 1.30 MEF2C 1059 304151 C DOMINANT 0.0085504 1.25 MEF2C 1060 304159 T DOMINANT 0.0021511 1.30 GPR98 1063 7716829 A DOMINANT 0.0390854 0.83 GPR98 1067 1876635 C RECESSIVE 0.0053294 0.21 GPR98 1069 1852731 C ADDITIVE 0.0462196 0.86 PJA2 1086 2963046 T RECESSIVE 0.0407637 1.29 PJA2 1087 2914705 A RECESSIVE 0.0380956 1.30 PJA2 1089 2963029 C RECESSIVE 0.0083230 1.44 PJA2 1090 2963031 A RECESSIVE 0.0215023 1.48 PJA2 1091 2963034 A RECESSIVE 0.0155698 1.40 PJA2 1092 2963013 C RECESSIVE 0.0065274 1.58 KCNN2 1094 1841248 G RECESSIVE 0.0051033 0.43 KCNN2 1095 6889371 G RECESSIVE 0.0101849 0.45 SEMA6A 1096 154599 G RECESSIVE 0.0337687 0.61 SEMA6A 1097 154600 C RECESSIVE 0.0488880 0.64 VDAC1 1110 2066944 T RECESSIVE 0.0139245 0.51 GRIA1 1133 1037892 T RECESSIVE 0.0339369 0.68 ODZ2 1134 5024074 G DOMINANT 0.0015007 1.42 ODZ2 1137 1549152 C DOMINANT 0.0358324 0.81 ODZ2 1138 9284975 T DOMINANT 0.0430784 0.76 ODZ2 1140 11952245 G DOMINANT 0.0310791 0.83 ODZ2 1141 11959012 T DOMINANT 0.0200308 1.25 ODZ2 1143 10447203 A ADDITIVE 0.0114402 0.87 ODZ2 1144 11748886 G ADDITIVE 0.0306799 0.79 WWC1 1146 9686714 C RECESSIVE 0.0138956 0.12 WWC1 1147 2085449 A ADDITIVE 0.0147636 0.86 WWC1 1150 888773 A ADDITIVE 0.0147299 0.82 KCNIP1 1154 4867625 A RECESSIVE 0.0084345 1.79 STK10 1157 2172048 C RECESSIVE 0.0266094 1.27 EXOC2 1162 9405242 A DOMINANT 0.0286682 0.82 EXOC2 1164 1766835 C RECESSIVE 0.0130641 1.55 EXOC2 1165 4960092 G RECESSIVE 0.0171303 1.65 EXOC2 1167 1747586 A RECESSIVE 0.0472588 1.53 EXOC2 1168 9328331 G RECESSIVE 0.0476395 1.44 JARID2 1174 2237156 T ADDITIVE 0.0054397 1.24 JARID2 1175 4109434 T ADDITIVE 0.0061261 0.88 JARID2 1176 9383054 G ADDITIVE 0.0043356 1.25 JARID2 1177 2237152 G DOMINANT 0.0007130 1.36 JARID2 1178 2237150 G DOMINANT 0.0038437 1.30 JARID2 1179 4085876 T ADDITIVE 0.0016878 1.20 JARID2 1180 2282827 C ADDITIVE 0.0033568 1.17 JARID2 1181 9476827 T ADDITIVE 0.0010437 1.20 JARID2 1182 2237124 C ADDITIVE 0.0006731 1.22 ATXN1 1183 235146 C RECESSIVE 0.0194869 0.78 ATXN1 1184 235147 A DOMINANT 0.0015523 1.35 ATXN1 1185 2237175 C DOMINANT 0.0033516 0.70 SLC17A4 1198 9358890 G DOMINANT 0.0070529 0.66 BTN3A1 1214 3799378 G RECESSIVE 0.0343668 1.51 MSH5 1217 2299851 A ADDITIVE 0.0063621 1.35 MSH5 1218 707937 C RECESSIVE 0.0160747 1.82 KLC4 1221 9471999 C RECESSIVE 0.0279392 0.34 TJAP1 1223 7755135 T DOMINANT 0.0170193 1.30 XPO5 1224 7769795 A ADDITIVE 0.0440420 1.25 XPO5 1225 7748977 C ADDITIVE 0.0377733 1.26 XPO5 1226 1096699 A RECESSIVE 0.0342656 0.73 XPO5 1227 699937 T RECESSIVE 0.0267710 0.72 TMEM63B 1228 1935611 A DOMINANT 0.0021920 0.74 ELOVL5 1229 10948744 G DOMINANT 0.0049312 1.28 ELOVL5 1230 209485 A RECESSIVE 0.0440659 0.81 ELOVL5 1231 1579454 G ADDITIVE 0.0157892 0.82 ELOVL5 1232 9474507 A ADDITIVE 0.0170088 0.82 ELOVL5 1233 9296711 G ADDITIVE 0.0061497 0.83 RIMS1 1234 9360527 T DOMINANT 0.0207283 1.24 RIMS1 1235 2349095 T ADDITIVE 0.0427535 1.17 HTR1B 1236 6296 C ADDITIVE 0.0424589 0.90 GABRR2 1238 9294426 A ADDITIVE 0.0405476 0.92 GABRR2 1239 9344920 T ADDITIVE 0.0183365 0.86 TRDN 1244 7773653 T DOMINANT 0.0076876 1.31 TRDN 1245 1431284 G RECESSIVE 0.0445839 0.77 TRDN 1246 17737857 C RECESSIVE 0.0128481 0.78 TRDN 1249 6905508 T DOMINANT 0.0214175 1.22 TRDN 1250 1570187 C DOMINANT 0.0299527 1.21 TRDN 1251 1570186 T DOMINANT 0.0370378 1.20 TRDN 1252 1853158 G DOMINANT 0.0219061 1.22 TRDN 1253 6915835 C DOMINANT 0.0313070 1.21 TRDN 1254 9398739 T DOMINANT 0.0077908 1.26 TRDN 1255 7453704 C DOMINANT 0.0440035 1.19 TRDN 1256 1853157 A DOMINANT 0.0169131 1.23 TRDN 1257 9285452 G DOMINANT 0.0091034 1.26 TRDN 1258 1459767 C DOMINANT 0.0127535 1.25 NKAIN2 1259 342660 A DOMINANT 0.0416553 0.70 NKAIN2 1260 342641 T DOMINANT 0.0464314 0.72 EYA4 1264 7454561 G RECESSIVE 0.0330682 0.80 PDE7B 1266 7761961 T DOMINANT 0.0279036 1.22 PDE7B 1267 6916194 T ADDITIVE 0.0427785 1.12 PDE7B 1268 4074263 T ADDITIVE 0.0300311 1.42 UTRN 1275 9373430 A RECESSIVE 0.0306231 1.32 SYNE1 1276 2763031 T DOMINANT 0.0248949 0.82 SYNE1 1277 2635470 C DOMINANT 0.0242862 0.82 SYNE1 1278 2635469 A DOMINANT 0.0378937 0.83 SYNE1 1279 1324452 T DOMINANT 0.0422846 0.84 SYNE1 1280 2763015 A RECESSIVE 0.0149143 1.29 SLC22A3 1281 372665 C RECESSIVE 0.0062916 0.68 SLC22A3 1282 377551 A RECESSIVE 0.0114600 0.67 PDE10A 1293 6906719 A ADDITIVE 0.0136527 0.82 PDE10A 1294 481701 C RECESSIVE 0.0167779 0.39 SDK1 1295 651245 A RECESSIVE 0.0329166 1.29 SDK1 1296 4723420 A DOMINANT 0.0357213 0.82 SDK1 1297 12701426 A RECESSIVE 0.0399629 1.26 NXPH1 1305 3779355 A RECESSIVE 0.0233636 1.38 ETV1 1306 118020 G DOMINANT 0.0403479 1.20 DGKB 1309 6461071 C DOMINANT 0.0136856 1.24 DGKB 1310 6461072 A DOMINANT 0.0097236 1.25 DGKB 1312 2049447 C ADDITIVE 0.0165858 0.83 DGKB 1313 6967001 C RECESSIVE 0.0344874 1.70 TSPAN13 1317 706057 T RECESSIVE 0.0356695 1.27 SNX13 1318 4543441 A ADDITIVE 0.0474867 0.88 SNX13 1319 4544985 C ADDITIVE 0.0438740 0.88 STK31 1321 10950956 T DOMINANT 0.0196026 1.24 STK31 1322 6955786 G DOMINANT 0.0136536 1.24 STK31 1323 13244337 G DOMINANT 0.0122712 1.25 STK31 1324 2158055 C RECESSIVE 0.0227590 1.75 STK31 1325 12667136 T RECESSIVE 0.0297902 1.71 SKAP2 1327 550141 C DOMINANT 0.0302471 1.21 SKAP2 1328 17315929 T RECESSIVE 0.0449551 0.68 SKAP2 1329 1391805 G DOMINANT 0.0115043 1.25 CREB5 1330 2237361 C ADDITIVE 0.0024760 0.85 CREB5 1331 2237364 G ADDITIVE 0.0136271 0.83 PLEKHA8 1332 10951257 G DOMINANT 0.0262302 0.81 PLEKHA8 1333 11975645 C DOMINANT 0.0281621 0.81 CRHR2 1334 973002 G ADDITIVE 0.0383946 0.83 BMPER 1344 6968741 G RECESSIVE 0.0266098 0.21 EEPD1 1346 2098368 C ADDITIVE 0.0336799 0.85 VPS41 1347 11765454 G ADDITIVE 0.0058268 1.20 VPS41 1348 6462862 A DOMINANT 0.0358235 0.83 VPS41 1349 2240355 A ADDITIVE 0.0391994 0.85 VPS41 1350 10262154 T ADDITIVE 0.0046053 1.19 VPS41 1351 3801145 C DOMINANT 0.0214666 0.82 VPS41 1352 3779127 G ADDITIVE 0.0029837 1.19 VPS41 1353 10279367 A ADDITIVE 0.0055477 1.23 VPS41 1354 6961672 C DOMINANT 0.0320528 0.83 VPS41 1355 2286080 C ADDITIVE 0.0030299 1.20 VPS41 1356 4723789 T ADDITIVE 0.0043633 1.22 VPS41 1357 6462865 G ADDITIVE 0.0122099 1.17 VPS41 1358 6957565 C ADDITIVE 0.0072009 1.15 VPS41 1359 17618395 G ADDITIVE 0.0110340 1.20 VPS41 1360 4723793 G DOMINANT 0.0067641 0.79 VPS41 1361 17680408 A ADDITIVE 0.0042231 1.23 VPS41 1362 6462868 G ADDITIVE 0.0034174 1.20 VPS41 1363 6946636 C ADDITIVE 0.0066739 1.22 VPS41 1364 10085898 C ADDITIVE 0.0034282 1.21 VPS41 1365 7798033 C ADDITIVE 0.0239792 1.17 VPS41 1366 10951578 C ADDITIVE 0.0151908 1.19 VPS41 1367 10255290 A RECESSIVE 0.0472003 1.37 VPS41 1368 10255854 T RECESSIVE 0.0391532 1.39 VPS41 1369 859522 G RECESSIVE 0.0264937 0.21 IGFBP3 1370 1553009 A ADDITIVE 0.0479207 0.87 IGFBP3 1371 10282088 A ADDITIVE 0.0296121 0.84 IGFBP3 1372 10499637 A ADDITIVE 0.0337505 0.86 GRB10 1399 6976501 G DOMINANT 0.0031246 1.31 GRB10 1400 2329489 C DOMINANT 0.0231994 1.22 GRB10 1401 13311390 G DOMINANT 0.0138341 1.24 GRB10 1402 1978208 G DOMINANT 0.0175505 1.25 GRB10 1403 10265504 A DOMINANT 0.0268050 1.21 GRB10 1404 6968827 A DOMINANT 0.0097772 1.26 GRB10 1405 12536500 T DOMINANT 0.0293983 1.21 GRB10 1406 17134002 A DOMINANT 0.0191867 1.23 GRB10 1407 1019000 T DOMINANT 0.0063420 1.27 GRB10 1408 757774 G DOMINANT 0.0132302 1.25 GRB10 1409 6593164 C DOMINANT 0.0288063 1.21 GRB10 1410 10281065 A DOMINANT 0.0243187 1.22 GRB10 1411 6593174 T DOMINANT 0.0259624 1.22 GRB10 1412 2876846 C DOMINANT 0.0279213 1.21 GRB10 1413 11238326 G DOMINANT 0.0280415 1.21 GRB10 1414 6963498 C DOMINANT 0.0287868 1.21 GRB10 1415 6593182 G DOMINANT 0.0179188 1.25 GRB10 1416 6943901 G DOMINANT 0.0324424 1.21 GRB10 1417 6971834 T DOMINANT 0.0324424 1.21 WBSCR17 1419 6979579 C DOMINANT 0.0463092 0.82 WBSCR17 1420 648415 T ADDITIVE 0.0281075 0.88 WBSCR17 1421 995497 T ADDITIVE 0.0158683 0.83 CALN1 1422 3801156 T DOMINANT 0.0082123 1.31 CALN1 1423 749585 T DOMINANT 0.0102443 1.29 CALN1 1424 12673109 T RECESSIVE 0.0041836 0.47 CALN1 1425 6963114 A RECESSIVE 0.0087261 0.50 CALN1 1426 10254309 C RECESSIVE 0.0084468 0.50 CALN1 1427 10950297 C RECESSIVE 0.0053872 0.48 CALN1 1428 12666578 A RECESSIVE 0.0090005 0.47 CALN1 1429 10260183 C RECESSIVE 0.0022818 0.37 CALN1 1430 10260420 C RECESSIVE 0.0011975 0.34 CALN1 1435 9638655 A DOMINANT 0.0318496 1.22 CALN1 1436 6946380 A RECESSIVE 0.0477544 0.76 MAGI2 1441 38107 A RECESSIVE 0.0360157 1.38 MAGI2 1442 38111 G RECESSIVE 0.0141213 1.38 MAGI2 1448 860246 A DOMINANT 0.0235468 0.82 CACNA2D1 1449 37068 C RECESSIVE 0.0314903 0.76 CACNA2D1 1450 37076 G RECESSIVE 0.0487669 0.77 PCLO 1451 2107828 A ADDITIVE 0.0074065 1.18 PCLO 1452 10954694 C RECESSIVE 0.0350386 0.76 PCLO 1453 7781142 A ADDITIVE 0.0138359 1.14 PCLO 1454 7799260 C ADDITIVE 0.0119021 1.15 PCLO 1455 1034780 C ADDITIVE 0.0174271 1.17 PCLO 1456 7778238 C ADDITIVE 0.0068488 0.82 PCLO 1457 12707567 G RECESSIVE 0.0459516 1.30 PCLO 1458 10240976 A RECESSIVE 0.0314341 1.27 PPP1R9A 1466 17305991 T RECESSIVE 0.0233510 0.78 PPP1R9A 1467 7806304 C ADDITIVE 0.0480923 0.89 PPP1R9A 1468 854520 T DOMINANT 0.0495215 1.21 PPP1R9A 1469 854521 C ADDITIVE 0.0398185 0.85 PPP1R9A 1470 854531 T DOMINANT 0.0403329 1.20 PPP1R9A 1471 854532 T DOMINANT 0.0441487 1.19 PPP1R9A 1472 854534 A DOMINANT 0.0149600 1.25 PPP1R9A 1473 854535 C DOMINANT 0.0182574 1.24 PPP1R9A 1474 854537 A ADDITIVE 0.0156679 0.85 DYNC1I1 1476 4729206 G ADDITIVE 0.0045583 1.37 DYNC1I1 1477 2171555 A ADDITIVE 0.0145986 1.19 DYNC1I1 1478 13238456 C ADDITIVE 0.0210332 1.19 ZNF3 1480 6465760 A DOMINANT 0.0475339 1.19 ZNF3 1481 4424195 G DOMINANT 0.0200763 1.22 EMID2 1482 4727494 G DOMINANT 0.0023064 0.77 EMID2 1483 869127 T ADDITIVE 0.0455470 0.78 CUX1 1486 2694166 A RECESSIVE 0.0007876 1.97 NRCAM 1496 10262724 A RECESSIVE 0.0467176 1.33 KCND2 1497 10276880 G ADDITIVE 0.0262938 1.47 CADPS2 1503 916982 G RECESSIVE 0.0416549 0.71 CADPS2 1504 2501439 C ADDITIVE 0.0425517 1.13 GRM8 1512 712723 C DOMINANT 0.0250489 1.23 GRM8 1513 10228052 T DOMINANT 0.0385174 1.22 GRM8 1514 11978873 T ADDITIVE 0.0455030 0.88 GRM8 1515 17680718 C DOMINANT 0.0197320 1.23 GRM8 1516 766239 G DOMINANT 0.0197320 1.23 GRM8 1517 2299449 A DOMINANT 0.0210484 1.23 GRM8 1518 2237735 A DOMINANT 0.0210484 1.23 GRM8 1519 2283065 C DOMINANT 0.0163372 1.24 GRM8 1520 2283066 C DOMINANT 0.0201634 1.23 GRM8 1521 12154335 T DOMINANT 0.0426821 1.20 GRM8 1522 2023640 T ADDITIVE 0.0058360 1.18 GRM8 1523 2299523 A ADDITIVE 0.0075430 0.81 GRM8 1524 1018854 G ADDITIVE 0.0051250 0.82 GRM8 1525 2188187 C ADDITIVE 0.0098052 1.17 GRM8 1526 1156652 G ADDITIVE 0.0017295 1.16 GRM8 1527 1156654 A ADDITIVE 0.0022243 1.17 GRM8 1528 11563730 T ADDITIVE 0.0074010 1.20 GRM8 1529 1419442 T ADDITIVE 0.0014619 1.28 DGKI 1532 4732255 T RECESSIVE 0.0281503 1.31 DGKI 1533 12535157 A RECESSIVE 0.0441275 1.30 DGKI 1534 4728415 G RECESSIVE 0.0429775 1.28 DGKI 1535 2113578 T ADDITIVE 0.0293521 1.10 DGKI 1536 12707359 T RECESSIVE 0.0042222 1.33 DGKI 1537 7793852 G RECESSIVE 0.0034265 1.34 CREB3L2 1541 1020961 T DOMINANT 0.0396712 1.20 CREB3L2 1542 9757 G DOMINANT 0.0238794 1.22 CREB3L2 1544 11972734 A DOMINANT 0.0391734 1.20 TBXAS1 1546 2269997 T DOMINANT 0.0398368 1.20 CNTNAP2 1547 6969607 C ADDITIVE 0.0266035 0.88 CNTNAP2 1548 12703906 T ADDITIVE 0.0343689 0.91 CNTNAP2 1549 7803992 A ADDITIVE 0.0366156 1.19 CNTNAP2 1550 1542566 G ADDITIVE 0.0084223 1.16 CNTNAP2 1551 826811 C ADDITIVE 0.0016559 1.19 CNTNAP2 1552 700309 A ADDITIVE 0.0042302 1.16 CNTNAP2 1553 1525218 T ADDITIVE 0.0071294 1.16 CNTNAP2 1554 11972784 C ADDITIVE 0.0034040 1.17 CNTNAP2 1555 4726861 A ADDITIVE 0.0061281 1.19 CNTNAP2 1556 10242076 A ADDITIVE 0.0416655 1.11 CNTNAP2 1557 2022225 A ADDITIVE 0.0059064 1.17 CNTNAP2 1558 10276608 G ADDITIVE 0.0043470 1.17 CNTNAP2 1559 12703913 C ADDITIVE 0.0041744 1.16 CNTNAP2 1560 7789396 A ADDITIVE 0.0042509 1.16 CNTNAP2 1561 2373133 G ADDITIVE 0.0037206 1.16 CNTNAP2 1562 6947428 C ADDITIVE 0.0032470 1.17 CNTNAP2 1563 10270551 G ADDITIVE 0.0041744 1.16 CNTNAP2 1564 10260458 T RECESSIVE 0.0067884 1.58 CNTNAP2 1565 3915305 C ADDITIVE 0.0034758 1.17 CNTNAP2 1566 4725731 T ADDITIVE 0.0033189 1.16 CNTNAP2 1567 10952682 G ADDITIVE 0.0082219 1.14 CNTNAP2 1568 10952685 A ADDITIVE 0.0041685 1.15 CNTNAP2 1569 4726875 A DOMINANT 0.0054919 1.28 CNTNAP2 1570 1528507 C DOMINANT 0.0038729 1.30 CNTNAP2 1571 2888516 C RECESSIVE 0.0495788 0.69 CNTNAP2 1572 851653 A ADDITIVE 0.0498081 0.91 CNTNAP2 1573 10251347 G DOMINANT 0.0085100 1.55 ACCN3 1574 891507 T ADDITIVE 0.0414271 0.83 DPP6 1575 916513 G RECESSIVE 0.0249396 3.08 DPP6 1576 880730 A RECESSIVE 0.0352403 0.72 DPP6 1577 729269 T ADDITIVE 0.0367995 1.16 HTR5A 1578 1657276 C RECESSIVE 0.0487329 0.77 HTR5A 1579 1657283 G RECESSIVE 0.0101954 0.68 PTPRN2 1580 221295 A RECESSIVE 0.0227256 0.79 PTPRN2 1581 221300 C RECESSIVE 0.0369780 0.81 PTPRN2 1582 221303 A RECESSIVE 0.0030937 0.74 PTPRN2 1583 4716881 A RECESSIVE 0.0324292 0.74 PTPRN2 1584 13307400 C RECESSIVE 0.0185490 0.71 CSMD1 1586 341724 C ADDITIVE 0.0081167 1.22 CSMD1 1587 688894 G DOMINANT 0.0296692 1.22 CSMD1 1588 11136609 T DOMINANT 0.0212984 1.24 CSMD1 1589 1348267 C DOMINANT 0.0070134 0.79 CSMD1 1590 10092265 G DOMINANT 0.0056497 0.79 CSMD1 1591 7819225 C ADDITIVE 0.0237828 0.85 CSMD1 1592 270054 A DOMINANT 0.0250442 0.82 CSMD1 1593 12543159 T ADDITIVE 0.0102090 0.82 CSMD1 1594 9969557 T ADDITIVE 0.0306538 0.88 CSMD1 1595 7005990 G ADDITIVE 0.0073525 0.82 CSMD1 1596 7014229 T ADDITIVE 0.0165635 0.82 MCPH1 1598 2442633 G DOMINANT 0.0243083 0.81 MCPH1 1599 3020213 T DOMINANT 0.0171547 0.81 MCPH1 1600 2515435 C DOMINANT 0.0397371 0.83 MCPH1 1602 1375668 G RECESSIVE 0.0154748 1.42 MCPH1 1603 4455855 A RECESSIVE 0.0308755 1.37 MCPH1 1604 17624022 C ADDITIVE 0.0022198 0.77 MCPH1 1605 3739391 A DOMINANT 0.0102519 0.78 MCPH1 1606 3739392 G ADDITIVE 0.0135040 0.80 MCPH1 1607 2515514 A DOMINANT 0.0308876 0.81 MCPH1 1608 2912084 C ADDITIVE 0.0313028 0.88 ANGPT2 1609 7825811 T RECESSIVE 0.0427316 0.29 SGCZ 1611 10092634 C RECESSIVE 0.0394393 1.26 SGCZ 1612 2054356 G RECESSIVE 0.0179649 1.34 SGCZ 1613 1551816 C RECESSIVE 0.0224905 1.32 SGCZ 1614 1510445 C RECESSIVE 0.0247559 0.63 SGCZ 1615 11989868 C RECESSIVE 0.0363739 0.67 SGCZ 1616 11990657 A RECESSIVE 0.0313972 0.66 SGCZ 1617 11998116 G RECESSIVE 0.0231300 0.65 SGCZ 1618 7822045 A RECESSIVE 0.0250617 0.67 SLC7A2 1620 2588164 A ADDITIVE 0.0366482 0.88 ATP6V1B2 1627 13253777 G ADDITIVE 0.0206804 1.15 XPO7 1628 11135789 C DOMINANT 0.0275765 0.83 PPP3CC 1629 7827093 C RECESSIVE 0.0426589 0.80 PPP3CC 1630 11778831 T RECESSIVE 0.0414312 0.80 PPP3CC 1631 2469757 T RECESSIVE 0.0442273 0.80 PPP3CC 1632 2461491 C RECESSIVE 0.0326578 0.79 PPP3CC 1633 2469760 G RECESSIVE 0.0401341 0.80 PPP3CC 1634 2461481 A RECESSIVE 0.0268717 0.78 PPP3CC 1635 1116084 A RECESSIVE 0.0232025 0.78 PPP3CC 1636 1482337 T RECESSIVE 0.0474068 0.80 SLC25A37 1638 7826247 G RECESSIVE 0.0133535 1.52 UNC5D 1642 7841785 A RECESSIVE 0.0121948 0.35 UNC5D 1643 6989128 A RECESSIVE 0.0233071 0.40 UNC5D 1644 983270 A RECESSIVE 0.0088917 0.34 UNC5D 1645 983273 G RECESSIVE 0.0233071 0.40 UNC5D 1646 4739416 G RECESSIVE 0.0027065 0.25 UNC5D 1647 10954992 C ADDITIVE 0.0318533 0.88 SNTG1 1656 2450290 G RECESSIVE 0.0077811 >5 SNTG1 1657 318861 G RECESSIVE 0.0078474 >5 SNTG1 1659 10504093 G RECESSIVE 0.0300981 >5 SNTG1 1661 1344326 G RECESSIVE 0.0154496 >5 SNTG1 1662 11783503 G RECESSIVE 0.0300981 >5 SNTG1 1664 11783631 T RECESSIVE 0.0300284 >5 SNTG1 1667 203632 T DOMINANT 0.0386653 0.83 SNTG1 1671 6997739 C RECESSIVE 0.0053340 0.50 SNTG1 1672 4440649 C DOMINANT 0.0359079 0.78 LYN 1674 907424 A RECESSIVE 0.0428401 1.24 LYN 1675 1877301 T RECESSIVE 0.0371189 1.25 LYN 1676 868541 A RECESSIVE 0.0395984 1.24 LYN 1677 1027986 C RECESSIVE 0.0368128 1.25 LYN 1678 10282821 A ADDITIVE 0.0229134 1.15 NKAIN3 1682 17243191 T RECESSIVE 0.0158950 1.51 NKAIN3 1683 1376759 A ADDITIVE 0.0334432 1.09 NKAIN3 1685 10458307 T ADDITIVE 0.0298413 1.17 DEPDC2 1690 1434764 A RECESSIVE 0.0383367 1.29 DEPDC2 1691 1014663 C RECESSIVE 0.0378064 1.30 KCNB2 1692 13251896 G DOMINANT 0.0148115 1.25 KCNB2 1693 2256431 A DOMINANT 0.0208368 1.22 KCNB2 1694 1972888 C DOMINANT 0.0192951 1.22 KCNB2 1695 2256012 C DOMINANT 0.0409104 1.20 KCNB2 1696 2196904 C DOMINANT 0.0019747 1.31 KCNB2 1697 1899077 T DOMINANT 0.0426818 1.19 KCNB2 1698 1866740 A DOMINANT 0.0199283 1.22 KCNB2 1699 1440355 C DOMINANT 0.0390306 1.19 KCNB2 1700 2247121 A DOMINANT 0.0175706 1.23 KCNB2 1701 2243607 G DOMINANT 0.0235291 1.22 KCNB2 1702 1965805 G DOMINANT 0.0374924 1.20 KCNB2 1703 2919408 G DOMINANT 0.0052564 1.28 KCNB2 1704 4571768 G ADDITIVE 0.0087585 1.21 KCNB2 1705 4307385 C ADDITIVE 0.0262631 1.17 KCNB2 1706 4307386 C ADDITIVE 0.0223659 1.13 KCNB2 1707 10096802 A RECESSIVE 0.0400735 1.24 KCNB2 1708 7006287 G RECESSIVE 0.0417485 1.24 MMP16 1710 10100297 G DOMINANT 0.0093713 1.25 MMP16 1711 4961087 C DOMINANT 0.0061100 1.27 MMP16 1713 4548227 A DOMINANT 0.0052824 1.27 ZFPM2 1735 16873003 C RECESSIVE 0.0291068 1.55 ZFPM2 1737 7823133 T RECESSIVE 0.0399677 1.51 ZFPM2 1738 6992053 A RECESSIVE 0.0399677 1.51 ZFPM2 1739 1481026 T RECESSIVE 0.0310871 1.55 CSMD3 1742 4876279 T DOMINANT 0.0239791 1.23 CSMD3 1743 17628739 G DOMINANT 0.0403819 0.83 CSMD3 1744 17630545 C ADDITIVE 0.0198970 0.87 CSMD3 1745 10505182 A ADDITIVE 0.0162187 0.86 CSMD3 1746 1895016 G DOMINANT 0.0319117 1.22 CSMD3 1747 16883350 A DOMINANT 0.0141110 0.79 CSMD3 1748 929685 T ADDITIVE 0.0127708 1.18 CSMD3 1749 1420859 T ADDITIVE 0.0251957 1.15 CSMD3 1750 1492678 A DOMINANT 0.0040323 0.76 CSMD3 1751 3950676 A DOMINANT 0.0032317 0.76 CSMD3 1752 4876281 G RECESSIVE 0.0130176 1.27 CSMD3 1753 4876468 T DOMINANT 0.0029974 0.75 CSMD3 1754 4563913 T DOMINANT 0.0043788 0.76 CSMD3 1755 4556111 T ADDITIVE 0.0266173 1.12 CSMD3 1756 1873746 T DOMINANT 0.0040320 0.76 CSMD3 1757 6994009 A RECESSIVE 0.0080830 1.30 CSMD3 1758 9886643 C RECESSIVE 0.0071703 1.30 CSMD3 1759 12676848 A RECESSIVE 0.0090360 1.29 CSMD3 1760 9649933 A RECESSIVE 0.0112562 1.28 CSMD3 1761 1492660 A ADDITIVE 0.0325255 1.10 CSMD3 1765 1513520 G RECESSIVE 0.0237756 0.79 FBXO32 1768 4870855 A ADDITIVE 0.0396670 0.78 FER1L6 1777 6981430 G DOMINANT 0.0380371 1.21 MTSS1 1778 2013845 G ADDITIVE 0.0125099 0.87 MTSS1 1779 9771920 T RECESSIVE 0.0433217 0.52 MTSS1 1780 919544 A ADDITIVE 0.0082588 0.82 MTSS1 1781 3901290 C RECESSIVE 0.0032857 2.47 DDEF1 1785 2670886 C RECESSIVE 0.0066020 0.35 ADCY8 1786 6986982 A RECESSIVE 0.0136146 0.46 ADCY8 1787 11776982 C RECESSIVE 0.0225496 0.50 ADCY8 1788 7461448 A RECESSIVE 0.0219152 0.50 COL22A1 1790 7017524 A DOMINANT 0.0234086 0.79 COL22A1 1791 10875432 G RECESSIVE 0.0327652 1.45 COL22A1 1792 7818881 C ADDITIVE 0.0282287 1.13 COL22A1 1793 10090299 C ADDITIVE 0.0199321 1.14 COL22A1 1794 7838300 C ADDITIVE 0.0226159 1.16 COL22A1 1795 7838450 C ADDITIVE 0.0330791 1.16 COL22A1 1796 9324497 G ADDITIVE 0.0286441 1.15 COL22A1 1797 2292927 T RECESSIVE 0.0073296 1.84 COL22A1 1798 4736221 T RECESSIVE 0.0010171 2.31 COL22A1 1799 7006103 C RECESSIVE 0.0006843 2.36 COL22A1 1800 1879047 T RECESSIVE 0.0010017 2.31 KCNK9 1801 885724 C DOMINANT 0.0271704 0.82 PTP4A3 1802 7464176 T ADDITIVE 0.0235240 1.18 SMARCA2 1803 13288443 G DOMINANT 0.0257316 0.79 SMARCA2 1804 7035991 T DOMINANT 0.0367617 0.80 SMARCA2 1806 7858344 T DOMINANT 0.0118075 0.76 SMARCA2 1807 10965113 C DOMINANT 0.0238185 0.80 SMARCA2 1809 3818385 T DOMINANT 0.0158222 0.77 SLC1A1 1811 7045401 G RECESSIVE 0.0038336 0.71 SLC1A1 1813 4742013 C ADDITIVE 0.0463596 0.75 ADAMTSL1 1815 563805 C RECESSIVE 0.0287211 1.89 ASAH3L 1816 2383096 A DOMINANT 0.0218034 0.81 KIAA1797 1817 10738564 G DOMINANT 0.0338537 1.22 KIAA1797 1818 7848159 G DOMINANT 0.0283309 1.23 KIAA1797 1820 17685673 T RECESSIVE 0.0332263 1.29 KIAA1797 1822 16938162 C RECESSIVE 0.0191739 1.33 KIAA1797 1823 10511687 G RECESSIVE 0.0234244 1.33 KIAA1797 1824 7025868 G ADDITIVE 0.0234769 1.21 KIAA1797 1825 6475483 T ADDITIVE 0.0446537 1.16 KIAA1797 1826 2383169 C ADDITIVE 0.0326291 1.17 KIAA1797 1827 2383170 A ADDITIVE 0.0228506 1.20 KIAA1797 1828 10738569 A ADDITIVE 0.0316246 1.19 KIAA1797 1829 4278230 G RECESSIVE 0.0022173 0.73 IFT74 1830 7035755 G ADDITIVE 0.0186187 0.81 IFT74 1831 7039400 A ADDITIVE 0.0346589 0.82 IFT74 1832 17756299 C DOMINANT 0.0151261 0.74 IFT74 1833 7857669 A ADDITIVE 0.0144243 0.80 IFT74 1835 17694631 C ADDITIVE 0.0118149 0.78 IFT74 1836 2095405 C ADDITIVE 0.0108959 0.80 TEK 1837 1591355 G ADDITIVE 0.0082850 0.80 TEK 1838 4601425 T RECESSIVE 0.0014039 0.66 PIP5K1B 1841 4744726 G DOMINANT 0.0314778 1.23 PIP5K1B 1842 1414949 C DOMINANT 0.0244834 1.24 PIP5K1B 1843 11144133 T RECESSIVE 0.0239211 0.79 PIP5K1B 1845 872077 A ADDITIVE 0.0012371 0.76 MAMDC2 1846 3015182 C ADDITIVE 0.0415595 1.19 MAMDC2 1847 3015189 G ADDITIVE 0.0366178 1.19 MAMDC2 1848 3015213 A ADDITIVE 0.0424673 1.19 MAMDC2 1849 3015223 A ADDITIVE 0.0127180 1.26 MAMDC2 1850 2182731 C ADDITIVE 0.0104016 1.20 TRPM3 1851 2275242 G ADDITIVE 0.0427214 1.11 TRPM3 1852 1415229 A ADDITIVE 0.0374724 1.12 TRPM3 1853 6560161 G ADDITIVE 0.0439742 1.17 TRPM3 1854 1337028 T ADDITIVE 0.0286367 1.18 TRPM3 1855 7022926 G ADDITIVE 0.0339566 1.18 TRPM3 1856 10868916 C ADDITIVE 0.0338369 0.85 TRPM6 1869 539079 G RECESSIVE 0.0210478 4.08 TRPM6 1870 506973 C RECESSIVE 0.0329027 3.26 TRPM6 1871 2274924 G ADDITIVE 0.0168181 1.22 TRPM6 1872 3750425 T RECESSIVE 0.0331844 3.25 TRPM6 1873 12004677 G ADDITIVE 0.0111713 1.22 NTRK2 1884 1439054 C RECESSIVE 0.0432386 0.33 NTRK2 1886 1212171 C RECESSIVE 0.0319888 0.79 NTRK2 1887 1187329 A RECESSIVE 0.0341744 0.79 NTRK2 1888 3780632 C RECESSIVE 0.0032326 0.67 NTRK2 1889 10116453 A RECESSIVE 0.0050538 0.62 NTRK2 1890 7867174 C RECESSIVE 0.0015349 0.65 NTRK2 1891 1936435 T RECESSIVE 0.0154401 0.70 NTRK2 1892 7038866 A ADDITIVE 0.0110408 0.90 NTRK2 1893 1539676 A RECESSIVE 0.0104620 0.68 NTRK2 1894 2799482 C RECESSIVE 0.0061924 0.69 NTRK2 1895 2799483 C RECESSIVE 0.0061924 0.69 NTRK2 1896 1778913 T RECESSIVE 0.0142011 1.62 NTRK2 1897 10512154 A RECESSIVE 0.0410501 1.49 NTRK2 1898 9314735 G RECESSIVE 0.0244377 1.58 DAPK1 1899 6560011 C RECESSIVE 0.0389489 0.79 DAPK1 1900 11141934 A RECESSIVE 0.0396753 <.2 DAPK1 1901 3128501 G RECESSIVE 0.0199596 1.31 SHC3 1903 9410299 C DOMINANT 0.0305083 0.81 ZNF169 1910 3118766 C RECESSIVE 0.0379430 0.76 GABBR2 1912 1435253 T ADDITIVE 0.0416995 0.85 GABBR2 1913 970388 C DOMINANT 0.0148177 0.81 GABBR2 1914 7850445 G DOMINANT 0.0293185 0.83 GRIN3A 1915 9299345 T ADDITIVE 0.0144311 0.78 GRIN3A 1916 10819954 A RECESSIVE 0.0212699 0.65 GRIN3A 1917 10819959 C RECESSIVE 0.0157693 0.63 GRIN3A 1918 1323421 T DOMINANT 0.0302447 1.23 GRIN3A 1919 7849782 C RECESSIVE 0.0088792 0.76 GRIN3A 1920 2146801 T DOMINANT 0.0474707 1.19 GRIN3A 1921 1853447 T RECESSIVE 0.0169973 0.62 GRIN3A 1922 12708308 C RECESSIVE 0.0093364 0.60 GRIN3A 1923 4742823 A DOMINANT 0.0370507 1.22 GRIN3A 1924 2485534 A RECESSIVE 0.0107954 0.77 GRIN3A 1925 2506362 C DOMINANT 0.0267598 1.24 GRIN3A 1926 10760802 T RECESSIVE 0.0040421 0.74 GRIN3A 1927 4278209 T RECESSIVE 0.0042671 0.74 GRIN3A 1928 2786720 C DOMINANT 0.0030816 1.34 PALM2 1937 10816929 A ADDITIVE 0.0366808 1.12 SVEP1 1938 4978934 C ADDITIVE 0.0408891 0.90 SVEP1 1939 10817042 T RECESSIVE 0.0053090 0.65 RGS3 1944 4979253 G DOMINANT 0.0161113 0.81 RGS3 1945 12337340 C RECESSIVE 0.0194267 3.56 ZNF618 1946 10121424 T DOMINANT 0.0251012 1.21 DFNB31 1956 10817625 A RECESSIVE 0.0420573 1.24 DFNB31 1957 10982246 A RECESSIVE 0.0388448 1.23 DFNB31 1958 1535964 C RECESSIVE 0.0448325 1.27 DFNB31 1959 10817635 A DOMINANT 0.0146594 0.78 DFNB31 1960 10817636 A DOMINANT 0.0258219 0.80 PAPPA 1961 1475215 A RECESSIVE 0.0186419 1.36 ASTN2 1965 1876475 A DOMINANT 0.0273090 0.82 ASTN2 1966 767432 A RECESSIVE 0.0101445 1.42 ASTN2 1967 1475057 T DOMINANT 0.0052805 0.78 ASTN2 1968 1542987 C DOMINANT 0.0063019 0.78 ASTN2 1969 1885242 A DOMINANT 0.0425887 0.83 ASTN2 1970 803926 C RECESSIVE 0.0167959 1.27 ASTN2 1971 803929 A RECESSIVE 0.0167959 1.27 ASTN2 1972 2900132 G DOMINANT 0.0273053 0.83 ASTN2 1973 811689 T DOMINANT 0.0363152 0.83 ASTN2 1974 803939 G RECESSIVE 0.0132340 1.29 ASTN2 1975 10983314 T DOMINANT 0.0176569 0.81 ASTN2 1976 10759876 A RECESSIVE 0.0325558 0.60 ASTN2 1977 3849144 G RECESSIVE 0.0359050 0.61 ASTN2 1981 1928993 C ADDITIVE 0.0227890 0.91 ASTN2 1982 1928995 G RECESSIVE 0.0192020 0.78 ASTN2 1986 10739492 A ADDITIVE 0.0380223 0.87 ASTN2 1987 7032028 T RECESSIVE 0.0165675 0.77 ASTN2 1988 17419611 T DOMINANT 0.0112128 1.28 CDK5RAP2 1990 3849113 C RECESSIVE 0.0356542 0.15 CDK5RAP2 1991 10760103 G ADDITIVE 0.0329487 0.77 TTLL11 1997 13299260 T RECESSIVE 0.0443712 0.82 LHX6 2001 7859776 T DOMINANT 0.0298107 0.83 DENND1A 2002 7047077 T RECESSIVE 0.0056382 0.65 DENND1A 2003 7044960 T RECESSIVE 0.0305607 0.70 DENND1A 2004 3829851 C RECESSIVE 0.0304882 4.73 DENND1A 2005 17212242 C DOMINANT 0.0381496 1.23 DENND1A 2006 10760290 T RECESSIVE 0.0073319 0.66 DENND1A 2007 10986026 T RECESSIVE 0.0193819 0.70 DENND1A 2008 10986064 T RECESSIVE 0.0082638 0.53 DENND1A 2009 1346643 G RECESSIVE 0.0384185 0.70 DENND1A 2010 12377523 A RECESSIVE 0.0380315 0.73 DENND1A 2011 670961 A DOMINANT 0.0165799 1.28 DENND1A 2012 623640 C DOMINANT 0.0213830 1.33 DENND1A 2013 630991 A ADDITIVE 0.0354109 1.22 NEK6 2014 4838141 T RECESSIVE 0.0176925 0.75 NEK6 2015 4838142 T RECESSIVE 0.0173032 0.75 NEK6 2016 7020077 T RECESSIVE 0.0374866 0.39 ABL1 2018 11244112 T RECESSIVE 0.0104563 1.56 ABL1 2019 2791728 A RECESSIVE 0.0103761 1.56 ABL1 2020 2583845 A RECESSIVE 0.0101904 1.56 ABL1 2021 2855160 T ADDITIVE 0.0482647 1.11 ABL1 2022 2789764 T RECESSIVE 0.0060805 1.60 ABL1 2023 2253070 A RECESSIVE 0.0084280 1.57 ABL1 2024 2253084 T RECESSIVE 0.0133269 1.54 ABL1 2025 2855166 G RECESSIVE 0.0080620 1.58 ABL1 2026 10793970 C RECESSIVE 0.0095570 1.58 ABL1 2027 2260323 C RECESSIVE 0.0035922 0.39 TSC1 2028 2072058 A RECESSIVE 0.0218350 1.27 TSC1 2029 1076160 A ADDITIVE 0.0031707 1.20 TSC1 2030 2106346 C ADDITIVE 0.0038176 1.18 VAV2 2034 3780737 T ADDITIVE 0.0373574 1.21 VAV2 2035 7038256 T DOMINANT 0.0491421 1.23 VAV2 2036 7025939 C DOMINANT 0.0484149 1.23 VAV2 2037 7852459 C ADDITIVE 0.0374513 1.20 KCNT1 2038 497547 G RECESSIVE 0.0181664 8.29 INPP5E 2039 3812591 C RECESSIVE 0.0392248 0.67 NOTCH1 2040 3124596 G RECESSIVE 0.0381242 0.81 CACNA1B 2047 2606356 C RECESSIVE 0.0373269 0.70 PRKCQ 2050 7098118 G RECESSIVE 0.0322084 0.80 MYO3A 2066 12413819 G ADDITIVE 0.0465566 1.12 MYO3A 2067 10828913 A RECESSIVE 0.0251933 0.79 MYO3A 2068 1339814 T ADDITIVE 0.0285389 0.91 MYO3A 2069 1416860 T ADDITIVE 0.0394525 0.91 MYO3A 2070 7899567 A ADDITIVE 0.0356197 0.91 MYO3A 2071 11014934 G ADDITIVE 0.0329156 0.90 MYO3A 2072 12246202 C ADDITIVE 0.0336769 0.89 MYO3A 2073 12263990 G ADDITIVE 0.0156424 0.89 MYO3A 2074 7095559 A ADDITIVE 0.0254709 0.89 MYO3A 2075 12258453 T ADDITIVE 0.0211277 0.89 SLC18A3 2076 7072155 A ADDITIVE 0.0302690 0.86 SLC18A3 2077 3810947 A ADDITIVE 0.0020366 0.61 PRKG1 2078 6479874 T RECESSIVE 0.0168037 0.48 PRKG1 2079 1904701 A RECESSIVE 0.0439780 1.24 PRKG1 2080 1904693 C RECESSIVE 0.0044438 0.74 PRKG1 2081 1904692 T RECESSIVE 0.0050777 0.74 PRKG1 2082 7893773 T ADDITIVE 0.0160324 0.91 PRKG1 2083 1904683 A RECESSIVE 0.0365828 0.79 PRKG1 2087 10466032 A ADDITIVE 0.0215148 1.12 PRKG1 2088 7898110 C ADDITIVE 0.0140078 1.13 PCDH15 2089 7894926 G DOMINANT 0.0278962 0.83 PCDH15 2110 11004864 A RECESSIVE 0.0029424 0.61 PCDH15 2111 11004899 C ADDITIVE 0.0265588 0.89 PCDH15 2112 11817318 T RECESSIVE 0.0075861 0.64 PCDH15 2113 16907523 G RECESSIVE 0.0055983 0.63 ANK3 2114 4948381 C RECESSIVE 0.0163307 1.42 ANK3 2117 2393614 T DOMINANT 0.0227626 1.22 ANK3 2118 11814110 A DOMINANT 0.0059685 1.28 JMJD1C 2121 10733789 C RECESSIVE 0.0036418 1.53 JMJD1C 2122 10761739 C RECESSIVE 0.0310920 1.27 JMJD1C 2123 10761741 T RECESSIVE 0.0170313 1.31 JMJD1C 2125 10740118 C RECESSIVE 0.0307258 1.27 CTNNA3 2127 4746541 G ADDITIVE 0.0377940 0.86 CTNNA3 2128 10509256 A DOMINANT 0.0105834 0.79 CTNNA3 2130 1903881 A ADDITIVE 0.0400313 0.84 CTNNA3 2131 6480141 T ADDITIVE 0.0172475 0.84 CTNNA3 2132 10996932 C ADDITIVE 0.0201696 0.84 CTNNA3 2133 1462817 A ADDITIVE 0.0458365 0.87 CTNNA3 2134 1471383 A ADDITIVE 0.0437793 0.88 CTNNA3 2135 2893985 C ADDITIVE 0.0403465 0.90 CTNNA3 2136 4578273 T RECESSIVE 0.0343268 0.53 CTNNA3 2138 12569810 G ADDITIVE 0.0435631 0.87 CTNNA3 2139 10997042 G ADDITIVE 0.0449482 0.87 CTNNA3 2145 6480253 A DOMINANT 0.0370978 0.82 CTNNA3 2146 1904633 A DOMINANT 0.0239466 0.82 CTNNA3 2147 2127595 A DOMINANT 0.0242748 0.82 CTNNA3 2148 7078583 T DOMINANT 0.0272915 0.82 CTNNA3 2149 1904653 T DOMINANT 0.0316871 0.82 CTNNA3 2150 1947842 A DOMINANT 0.0389275 0.83 CTNNA3 2151 10823003 C DOMINANT 0.0204615 0.81 CTNNA3 2152 7907339 T DOMINANT 0.0146015 0.80 CTNNA3 2153 1904645 G DOMINANT 0.0209166 0.81 CTNNA3 2156 10997759 A ADDITIVE 0.0133316 0.82 CTNNA3 2157 7076484 A ADDITIVE 0.0270663 0.85 CTNNA3 2158 4522060 G ADDITIVE 0.0127013 0.83 CTNNA3 2159 7076356 A ADDITIVE 0.0213460 0.85 CTNNA3 2160 7893446 C ADDITIVE 0.0208959 0.87 CTNNA3 2161 3125312 A DOMINANT 0.0251542 0.82 CTNNA3 2162 7072543 G ADDITIVE 0.0115815 0.83 CDH23 2163 2305210 A DOMINANT 0.0449191 1.19 KCNMA1 2164 846606 T DOMINANT 0.0476626 1.20 KCNMA1 2165 2569360 C ADDITIVE 0.0027201 1.25 KCNMA1 2166 2569361 C ADDITIVE 0.0028000 1.25 KCNMA1 2167 4980107 C ADDITIVE 0.0034214 1.28 KCNMA1 2168 10762731 G ADDITIVE 0.0050389 1.25 KCNMA1 2169 4980113 C ADDITIVE 0.0082204 1.25 KCNMA1 2170 10762732 T ADDITIVE 0.0088407 1.23 KCNMA1 2171 7086316 G RECESSIVE 0.0044008 1.98 KCNMA1 2172 10762740 G RECESSIVE 0.0047376 1.73 KCNMA1 2177 7078525 T RECESSIVE 0.0298495 2.10 KCNMA1 2178 11002054 G RECESSIVE 0.0443400 1.87 KCNMA1 2179 7071433 A ADDITIVE 0.0146885 0.83 KCNMA1 2180 7071575 C ADDITIVE 0.0088199 0.80 KCNMA1 2181 10824547 T DOMINANT 0.0046037 0.75 KCNMA1 2182 2673464 A ADDITIVE 0.0258129 1.21 NRG3 2183 11191281 G DOMINANT 0.0223381 0.82 NRG3 2187 474496 G ADDITIVE 0.0141283 0.88 NRG3 2188 495978 A RECESSIVE 0.0424455 0.76 SORBS1 2189 3193970 G ADDITIVE 0.0403484 0.87 SORBS1 2191 7904517 C DOMINANT 0.0481906 0.84 SORBS1 2192 4918918 T DOMINANT 0.0465045 0.84 SORBS1 2195 7086071 A RECESSIVE 0.0402730 0.81 PIK3AP1 2200 563654 A ADDITIVE 0.0485542 1.20 SLIT1 2201 2817688 G DOMINANT 0.0477908 0.84 SLIT1 2204 877825 A RECESSIVE 0.0068247 1.49 SLIT1 2205 1253425 T RECESSIVE 0.0044443 1.53 SORCS3 2206 10786806 T DOMINANT 0.0230872 0.81 SORCS3 2207 10884026 G DOMINANT 0.0466766 0.83 SORCS3 2212 2451484 T DOMINANT 0.0204182 1.22 SORCS3 2213 2451492 T DOMINANT 0.0448306 1.19 SORCS3 2214 2451498 C DOMINANT 0.0394798 1.20 VTI1A 2218 10509963 A ADDITIVE 0.0364346 1.15 VTI1A 2219 10885352 A ADDITIVE 0.0312111 1.16 ATRNL1 2220 1264764 C RECESSIVE 0.0423769 1.44 ATRNL1 2221 2165988 A RECESSIVE 0.0263977 1.49 ATRNL1 2222 659351 C ADDITIVE 0.0425307 0.92 ATRNL1 2226 11197258 A RECESSIVE 0.0241968 1.27 ATRNL1 2227 17724227 G RECESSIVE 0.0486980 1.22 ATRNL1 2229 11197299 G RECESSIVE 0.0420227 1.23 ATRNL1 2230 2804192 A DOMINANT 0.0465215 0.83 ATRNL1 2232 2804204 T DOMINANT 0.0452295 0.82 ATRNL1 2233 2804207 C DOMINANT 0.0446262 0.82 ATRNL1 2234 1590734 G DOMINANT 0.0220684 0.80 ATRNL1 2235 1590733 G DOMINANT 0.0271440 0.81 ATRNL1 2236 10787584 T DOMINANT 0.0300612 0.81 ATRNL1 2237 11197337 T DOMINANT 0.0247875 0.80 ATRNL1 2238 2804249 G DOMINANT 0.0261977 0.81 ATRNL1 2239 2420098 G DOMINANT 0.0258332 0.81 ATRNL1 2240 2615886 T DOMINANT 0.0213907 0.81 GRK5 2245 12783252 A DOMINANT 0.0293098 1.26 ATE1 2246 9971131 G RECESSIVE 0.0322772 1.28 ATE1 2247 1693688 C RECESSIVE 0.0110052 1.39 ATE1 2248 1696853 T RECESSIVE 0.0190620 1.32 ATE1 2249 2935718 C RECESSIVE 0.0165139 1.33 ATE1 2250 1693687 C RECESSIVE 0.0213620 1.31 ATE1 2251 7086628 G ADDITIVE 0.0298710 1.12 ATE1 2253 753455 C ADDITIVE 0.0240211 0.81 ATE1 2254 3862129 C RECESSIVE 0.0160747 1.82 ATE1 2255 11200201 C RECESSIVE 0.0250409 1.70 ATE1 2257 7907871 A RECESSIVE 0.0077470 2.10 ATE1 2258 12245528 C RECESSIVE 0.0170905 1.78 ATE1 2259 11818001 A RECESSIVE 0.0154840 1.79 ATE1 2260 10510101 A RECESSIVE 0.0127797 1.82 ATE1 2261 12253283 A RECESSIVE 0.0121793 1.82 ATE1 2262 11200257 A RECESSIVE 0.0126460 1.82 ATE1 2263 11200260 T RECESSIVE 0.0126460 1.82 EBF3 2264 11016947 T ADDITIVE 0.0249669 0.87 DEAF1 2267 10902209 A RECESSIVE 0.0407650 1.49 CEND1 2268 11823172 A ADDITIVE 0.0447735 1.12 TRIM21 2280 2599586 G ADDITIVE 0.0496600 1.09 GALNTL4 2282 12224023 C RECESSIVE 0.0315983 0.76 GALNTL4 2283 901553 C DOMINANT 0.0400766 0.84 GALNTL4 2284 11021956 C ADDITIVE 0.0036817 1.23 GALNTL4 2285 7484121 A ADDITIVE 0.0262693 1.12 SPON1 2291 2697852 G RECESSIVE 0.0314548 1.43 SPON1 2292 1969542 C RECESSIVE 0.0068803 1.46 SPON1 2303 12283632 A RECESSIVE 0.0211452 1.43 SPON1 2304 11023067 G RECESSIVE 0.0314589 1.39 SPON1 2309 1864658 C RECESSIVE 0.0225521 1.38 SPON1 2310 4757244 A RECESSIVE 0.0161609 1.41 SPON1 2311 2303974 A RECESSIVE 0.0392525 1.34 SERGEF 2319 999420 T ADDITIVE 0.0259634 0.91 SERGEF 2320 4757589 C ADDITIVE 0.0241152 0.88 SERGEF 2321 2299634 C DOMINANT 0.0470294 1.20 IGSF22 2322 9705036 T RECESSIVE 0.0454089 0.73 IGSF22 2325 4537730 A DOMINANT 0.0307116 1.20 PTPN5 2326 4757710 A DOMINANT 0.0068522 1.26 PTPN5 2327 4757711 T DOMINANT 0.0101211 1.25 PTPN5 2328 11024782 T DOMINANT 0.0108359 1.24 PTPN5 2329 4757718 G RECESSIVE 0.0044080 1.45 NAV2 2331 1559665 G RECESSIVE 0.0079769 1.30 NAV2 2333 1035700 T RECESSIVE 0.0146450 1.28 NAV2 2339 12807015 T RECESSIVE 0.0466472 0.81 LRRC4C 2362 976933 G ADDITIVE 0.0151178 0.83 LRRC4C 2363 7925066 T ADDITIVE 0.0223300 0.84 LRRC4C 2364 1452478 G ADDITIVE 0.0137950 0.77 LRRC4C 2365 6485190 A ADDITIVE 0.0341935 0.81 LRRC4C 2366 721587 A ADDITIVE 0.0202120 0.76 LRRC4C 2367 1470817 G ADDITIVE 0.0230646 0.83 LRRC4C 2368 1452474 C ADDITIVE 0.0215748 0.84 LRRC4C 2369 1452473 C ADDITIVE 0.0292250 0.79 LRRC4C 2370 10837372 T ADDITIVE 0.0142079 0.77 LRRC4C 2371 1452466 C ADDITIVE 0.0290746 0.79 LRRC4C 2373 10501227 G ADDITIVE 0.0128450 0.77 LRRC4C 2374 1452485 A ADDITIVE 0.0172530 0.79 PHACS 2376 16937817 G ADDITIVE 0.0225850 0.83 PHACS 2379 7950395 T ADDITIVE 0.0093959 0.83 PHACS 2382 11037858 A RECESSIVE 0.0140017 1.64 SYT13 2383 2863174 C RECESSIVE 0.0224882 2.71 SYT13 2384 6485604 T RECESSIVE 0.0224882 2.71 SYT13 2385 6416130 A ADDITIVE 0.0451255 1.15 SYT13 2386 12362429 G ADDITIVE 0.0337908 1.17 SYT13 2387 12362444 G ADDITIVE 0.0365689 1.17 SYT13 2388 1000665 C DOMINANT 0.0097587 1.28 SYT13 2389 7124508 T DOMINANT 0.0192891 1.24 CTNND1 2390 576859 A RECESSIVE 0.0449124 0.73 CTNND1 2391 2956981 A DOMINANT 0.0262929 1.23 CTNND1 2392 11570181 C DOMINANT 0.0375459 1.21 CTNND1 2393 606499 G DOMINANT 0.0419198 1.21 CTNND1 2394 1786438 T DOMINANT 0.0220739 1.24 CTNND1 2395 585337 C DOMINANT 0.0490368 1.20 CTNND1 2396 10750870 A DOMINANT 0.0437290 1.20 DLG2 2397 1075719 G ADDITIVE 0.0463368 0.90 DLG2 2398 10501540 G ADDITIVE 0.0071038 0.85 DLG2 2399 11233641 G DOMINANT 0.0091873 0.80 DLG2 2400 7116939 C DOMINANT 0.0180733 0.82 DLG2 2401 10898133 A ADDITIVE 0.0138623 0.83 DLG2 2402 6592120 G ADDITIVE 0.0238984 0.86 DLG2 2403 7113167 C ADDITIVE 0.0169090 0.85 DLG2 2404 515618 C ADDITIVE 0.0351546 0.89 DLG2 2405 635823 G ADDITIVE 0.0224424 0.88 DLG2 2406 489567 C ADDITIVE 0.0339389 0.92 DLG2 2407 1367980 G ADDITIVE 0.0001342 1.25 DLG2 2408 4480567 C ADDITIVE 0.0001111 1.26 DLG2 2409 2060147 G ADDITIVE 0.0000526 1.28 DLG2 2410 983590 T ADDITIVE 0.0002851 1.26 DLG2 2411 11233711 T ADDITIVE 0.0007972 1.26 DLG2 2412 12225388 A ADDITIVE 0.0006237 1.26 DLG2 2413 10898148 A ADDITIVE 0.0003065 1.34 DLG2 2414 12222455 A ADDITIVE 0.0012133 1.23 DLG2 2415 10898152 C ADDITIVE 0.0009121 1.18 DLG2 2416 7950988 T ADDITIVE 0.0007903 1.25 DLG2 2417 1945309 A ADDITIVE 0.0042119 1.24 DLG2 2418 10898301 A ADDITIVE 0.0422705 0.90 OPCML 2424 1894193 C DOMINANT 0.0428955 0.83 OPCML 2425 7119286 T RECESSIVE 0.0349083 1.23 OPCML 2426 10791288 G RECESSIVE 0.0423356 0.80 OPCML 2427 2155777 A RECESSIVE 0.0480178 1.73 TSPAN9 2434 650180 T RECESSIVE 0.0274779 0.77 TSPAN9 2435 544668 G RECESSIVE 0.0448808 0.79 TMEM16B 2436 2159952 A ADDITIVE 0.0117685 0.84 TMEM16B 2438 3782652 G DOMINANT 0.0205163 0.79 TMEM16B 2439 735393 A ADDITIVE 0.0048766 0.83 TMEM16B 2440 2277403 G DOMINANT 0.0328471 0.81 TMEM16B 2441 11832095 A DOMINANT 0.0051263 0.78 TMEM16B 2442 11063875 T DOMINANT 0.0038849 0.78 PIK3C2G 2461 4471494 C DOMINANT 0.0312098 0.76 PIK3C2G 2462 7968533 C DOMINANT 0.0267659 0.75 PIK3C2G 2464 10841059 A DOMINANT 0.0326190 0.83 ITPR2 2466 9442 T DOMINANT 0.0464723 0.84 ITPR2 2467 2570 C DOMINANT 0.0243506 0.82 ITPR2 2468 7955049 G DOMINANT 0.0290689 0.82 CNOT2 2476 7312236 C RECESSIVE 0.0187919 0.66 KCNC2 2478 4309217 A RECESSIVE 0.0489126 1.34 KCNC2 2479 4131954 T RECESSIVE 0.0463830 1.36 KCNC2 2480 2471653 T ADDITIVE 0.0255763 1.12 NAV3 2481 300447 C DOMINANT 0.0466417 1.19 NAV3 2482 2694667 A ADDITIVE 0.0174834 1.18 NAV3 2483 1375287 C DOMINANT 0.0454615 1.19 GAS2L3 2484 35716 A DOMINANT 0.0078126 0.78 GAS2L3 2485 35714 T DOMINANT 0.0151061 0.79 GAS2L3 2486 35711 G DOMINANT 0.0155281 0.80 CHST11 2488 2453161 G RECESSIVE 0.0303619 0.71 CHST11 2490 2642109 T RECESSIVE 0.0322027 0.74 CHST11 2491 1565815 T RECESSIVE 0.0076800 0.66 CHST11 2492 1038968 C RECESSIVE 0.0117274 0.69 CHST11 2493 2696006 T RECESSIVE 0.0076488 0.66 CHST11 2494 2463017 C RECESSIVE 0.0052053 0.65 CHST11 2495 2468082 G RECESSIVE 0.0199536 0.72 CHST11 2496 2468083 A RECESSIVE 0.0209249 0.69 KIAA1853 2497 7134748 G DOMINANT 0.0081069 0.80 KIAA1853 2498 7298308 C DOMINANT 0.0183467 0.81 KIAA1853 2499 11064675 C RECESSIVE 0.0344640 1.43 KIAA1853 2500 7136574 T DOMINANT 0.0268004 0.82 KIAA1853 2501 4075945 T DOMINANT 0.0335334 0.78 KIAA1853 2502 4075946 T RECESSIVE 0.0013569 1.38 PLA2G1B 2503 5637 A ADDITIVE 0.0455980 0.87 RIMBP2 2504 7132917 A DOMINANT 0.0315735 0.69 STX2 2507 1554807 T ADDITIVE 0.0488395 1.13 STX2 2508 7975825 C ADDITIVE 0.0443082 1.14 STX2 2509 4619189 T DOMINANT 0.0275395 1.23 STX2 2510 7956851 C ADDITIVE 0.0391212 1.14 KIAA1545 2511 3751309 G DOMINANT 0.0019743 1.37 KIAA1545 2512 11208 C DOMINANT 0.0287632 1.22 MTIF3 2513 2892058 G DOMINANT 0.0254705 0.58 MTIF3 2514 17085657 C DOMINANT 0.0390401 0.63 UBL3 2516 11618361 A RECESSIVE 0.0202510 0.77 N4BP2L2 2517 206335 C RECESSIVE 0.0320207 0.79 NBEA 2520 1148328 C DOMINANT 0.0464549 1.30 NBEA 2521 2247674 A DOMINANT 0.0475123 1.28 NBEA 2522 2243774 C DOMINANT 0.0173986 1.25 NBEA 2523 499570 A DOMINANT 0.0449816 1.28 NBEA 2525 9315346 T DOMINANT 0.0266363 0.82 NBEA 2526 7333195 T DOMINANT 0.0225556 0.82 NBEA 2527 3794394 G DOMINANT 0.0195103 0.81 TRPC4 2528 7319022 A DOMINANT 0.0378172 1.21 TRPC4 2529 1556541 C DOMINANT 0.0048620 1.29 TRPC4 2530 12858218 A RECESSIVE 0.0252777 0.79 TRPC4 2531 9548043 G DOMINANT 0.0015744 1.32 TRPC4 2532 1759875 G DOMINANT 0.0182381 0.80 KPNA3 2536 9526614 G DOMINANT 0.0059645 0.78 PCDH17 2538 9527675 G RECESSIVE 0.0155568 1.37 PCDH17 2539 9527676 G RECESSIVE 0.0111272 1.38 PCDH17 2540 2592866 A DOMINANT 0.0392094 1.21 PCDH17 2541 17175693 A DOMINANT 0.0243714 1.23 PCDH20 2542 9539153 T RECESSIVE 0.0101180 0.57 LMO7 2545 579540 C ADDITIVE 0.0227271 1.24 LMO7 2546 2273996 T ADDITIVE 0.0331422 1.17 SLAIN1 2547 2813740 T ADDITIVE 0.0261869 0.84 SLAIN1 2548 9530678 A ADDITIVE 0.0182447 0.83 SLAIN1 2549 9593251 T ADDITIVE 0.0113857 0.90 SLAIN1 2550 7997533 G ADDITIVE 0.0047501 0.80 SLAIN1 2551 9600917 C ADDITIVE 0.0045485 0.82 SLAIN1 2552 1279446 C ADDITIVE 0.0063095 0.85 GPC5 2554 9523304 A RECESSIVE 0.0068650 1.37 GPC5 2555 7322734 A RECESSIVE 0.0073729 1.37 GPC5 2556 4142965 C RECESSIVE 0.0133525 1.31 GPC5 2557 9523312 G RECESSIVE 0.0057670 1.38 GPC5 2558 8002779 G RECESSIVE 0.0079325 1.36 GPC5 2561 17267257 C RECESSIVE 0.0359110 1.34 GPC5 2563 10507993 G ADDITIVE 0.0409083 1.12 GPC6 2566 9561374 T ADDITIVE 0.0252836 1.11 GPC6 2567 3899317 A DOMINANT 0.0470229 0.83 GPC6 2568 1330620 A DOMINANT 0.0292062 0.83 GPC6 2569 9589816 A DOMINANT 0.0490167 0.84 GPC6 2570 4394948 C DOMINANT 0.0233102 0.82 GPC6 2571 7987964 T DOMINANT 0.0191043 0.82 GPC6 2572 7993501 C DOMINANT 0.0251535 0.82 GPC6 2573 9584153 C DOMINANT 0.0226752 0.82 GPC6 2574 9561444 T ADDITIVE 0.0342887 0.86 GPC6 2575 885192 G ADDITIVE 0.0383759 0.85 GPC6 2576 3759423 A ADDITIVE 0.0404510 0.87 GPC6 2577 3759422 A ADDITIVE 0.0317214 0.85 GPC6 2578 4486746 T ADDITIVE 0.0304719 0.87 GPC6 2579 9556328 T ADDITIVE 0.0342887 0.86 GPC6 2580 7317144 A ADDITIVE 0.0284312 0.85 GPC6 2581 2150124 T ADDITIVE 0.0198515 0.85 GPC6 2582 2892667 G ADDITIVE 0.0185626 0.87 GPC6 2583 1411507 C ADDITIVE 0.0183944 0.86 GPC6 2584 1983987 A ADDITIVE 0.0168726 0.85 GPC6 2585 2183430 T ADDITIVE 0.0232996 0.85 GPC6 2586 1411513 T ADDITIVE 0.0201909 0.85 GPC6 2587 9301916 C ADDITIVE 0.0136589 0.87 GPC6 2588 9524268 T ADDITIVE 0.0203651 0.87 GPC6 2589 9301957 A RECESSIVE 0.0278119 0.66 NALCN 2601 7992226 G RECESSIVE 0.0147207 1.42 NALCN 2602 570252 C RECESSIVE 0.0092784 1.30 FGF14 2614 12870187 T RECESSIVE 0.0144408 0.73 TTC5 2616 4981948 C ADDITIVE 0.0220117 1.21 TTC5 2617 3737220 A ADDITIVE 0.0147145 1.20 TTC5 2618 4981951 C ADDITIVE 0.0450037 1.17 TTC5 2619 1953552 A ADDITIVE 0.0374421 0.84 TTC5 2620 2318864 G DOMINANT 0.0292801 1.21 TTC5 2621 3742945 A DOMINANT 0.0472652 1.19 TTC5 2622 10873395 T DOMINANT 0.0347043 1.20 TEP1 2623 1760904 C ADDITIVE 0.0020357 1.21 TEP1 2624 1713458 T DOMINANT 0.0048196 1.32 TEP1 2625 1760903 T ADDITIVE 0.0024041 1.27 TEP1 2626 1713440 T RECESSIVE 0.0225677 1.34 NOVA1 2630 8008779 C RECESSIVE 0.0409157 0.61 SLC25A21 2633 7359156 G DOMINANT 0.0248664 0.82 SLC25A21 2634 1884777 T ADDITIVE 0.0250316 1.25 GNG2 2644 8014746 G ADDITIVE 0.0124262 0.82 GNG2 2645 8019331 A ADDITIVE 0.0232918 0.85 GNG2 2646 8008081 A ADDITIVE 0.0324350 0.86 DAAM1 2651 10873113 T RECESSIVE 0.0181338 0.53 DAAM1 2652 10483710 A RECESSIVE 0.0259872 0.55 PPP2R5E 2663 6573522 A RECESSIVE 0.0329840 1.41 PPP2R5E 2664 2754223 G RECESSIVE 0.0468080 1.37 PPP2R5E 2666 964954 G RECESSIVE 0.0214470 1.44 PPP2R5E 2667 1255771 G RECESSIVE 0.0163658 1.53 PPP2R5E 2670 7156393 T RECESSIVE 0.0304882 4.73 RGS6 2671 8003168 A ADDITIVE 0.0272940 0.85 RGS6 2672 11629078 G ADDITIVE 0.0102800 0.86 RGS6 2674 12894979 G DOMINANT 0.0192980 0.79 RGS6 2675 10149098 G DOMINANT 0.0067421 0.79 RGS6 2676 4903003 G DOMINANT 0.0232287 0.80 RGS6 2677 2139594 G DOMINANT 0.0372164 0.82 RGS6 2678 8007922 G DOMINANT 0.0371972 0.82 RGS6 2679 740337 C DOMINANT 0.0402133 0.83 RGS6 2680 2681754 A DOMINANT 0.0263361 0.81 RGS6 2681 2283380 T ADDITIVE 0.0044408 0.84 RGS6 2682 4903024 T RECESSIVE 0.0037284 0.64 RGS6 2683 2074953 G ADDITIVE 0.0110725 0.86 RGS6 2684 2239272 G ADDITIVE 0.0110812 0.90 KCNK10 2688 17771758 G RECESSIVE 0.0230278 0.72 KCNK10 2689 2223933 C RECESSIVE 0.0225705 0.72 KCNK10 2690 1950279 T RECESSIVE 0.0225705 0.72 KCNK10 2691 11628680 G RECESSIVE 0.0238746 0.72 KCNK10 2692 11844638 T RECESSIVE 0.0138222 0.70 KCNK10 2693 17698533 C RECESSIVE 0.0010514 0.60 KCNK10 2694 12185033 T ADDITIVE 0.0298994 0.92 KCNK13 2695 12432204 G ADDITIVE 0.0082331 1.22 KCNK13 2696 12894287 T DOMINANT 0.0070356 1.27 KCNK13 2697 12885846 T ADDITIVE 0.0181878 1.16 CCDC88C 2700 1970912 T RECESSIVE 0.0427118 1.25 CCDC88C 2701 17127245 A ADDITIVE 0.0000056 1.98 CCDC88C 2702 1046311 C RECESSIVE 0.0126923 0.51 CCDC88C 2703 8015982 C RECESSIVE 0.0354492 0.67 CCDC88C 2704 10131741 G RECESSIVE 0.0461950 0.68 CCDC88C 2705 8008996 T RECESSIVE 0.0344292 0.66 CCDC88C 2706 8007791 A RECESSIVE 0.0354492 0.67 CCDC88C 2709 11160006 C DOMINANT 0.0137069 1.26 ATP10A 2711 12592145 T RECESSIVE 0.0186787 0.25 ATP10A 2712 17555920 T RECESSIVE 0.0300942 >5 ATP10A 2713 17116015 A RECESSIVE 0.0423953 0.33 ATP10A 2714 17555995 C RECESSIVE 0.0299790 >5 ATP10A 2715 2066703 T RECESSIVE 0.0411497 0.23 ATP10A 2716 11637231 G RECESSIVE 0.0308049 0.73 ATP10A 2717 9888671 T RECESSIVE 0.0272411 0.45 RYR3 2718 2596229 A DOMINANT 0.0252864 1.24 RYR3 2719 1560968 G DOMINANT 0.0080819 1.28 RYR3 2720 2676085 A DOMINANT 0.0242734 1.22 RYR3 2721 2676087 A DOMINANT 0.0031600 1.34 RYR3 2722 2164249 C DOMINANT 0.0138068 1.26 RYR3 2723 2596159 T DOMINANT 0.0075480 1.29 RYR3 2724 2596163 G DOMINANT 0.0077911 1.28 RYR3 2726 2082753 A DOMINANT 0.0165656 1.25 RYR3 2727 2572175 A DOMINANT 0.0361360 1.23 RYR3 2728 2572169 A DOMINANT 0.0327803 1.22 RYR3 2729 2596175 A DOMINANT 0.0311287 1.23 RYR3 2731 11853872 A DOMINANT 0.0228117 0.76 RYR3 2733 6495228 G DOMINANT 0.0099332 1.28 C15ORF41 2735 7183415 C RECESSIVE 0.0249613 3.08 RASGRP1 2746 17651741 A DOMINANT 0.0290584 1.21 UNC13C 2749 2163195 A DOMINANT 0.0074064 0.79 UNC13C 2750 2115825 A DOMINANT 0.0296225 0.80 UNC13C 2751 8024845 G DOMINANT 0.0017932 0.76 UNC13C 2752 1897013 G ADDITIVE 0.0259308 0.83 UNC13C 2753 1864416 T ADDITIVE 0.0235201 0.83 UNC13C 2754 11636356 T ADDITIVE 0.0215324 0.83 UNC13C 2755 934192 A ADDITIVE 0.0133643 0.82 UNC13C 2767 9920150 G RECESSIVE 0.0411190 2.84 NEDD4 2768 10518828 A RECESSIVE 0.0234715 0.13 CGNL1 2771 17820281 A RECESSIVE 0.0053568 0.60 GRINL1A 2772 9920308 A RECESSIVE 0.0328098 0.78 GRINL1A 2773 9920106 T ADDITIVE 0.0126832 0.87 GRINL1A 2774 16953342 C RECESSIVE 0.0412209 0.79 GRINL1A 2775 16977629 T DOMINANT 0.0086808 0.69 GRINL1A 2776 16977631 C DOMINANT 0.0143872 0.77 ADAM10 2779 2414607 A ADDITIVE 0.0252614 1.19 CLK3 2781 2068982 A DOMINANT 0.0351073 0.80 ARNT2 2786 7172548 T RECESSIVE 0.0339851 0.70 ARNT2 2787 4459508 A RECESSIVE 0.0222836 0.67 AKAP13 2790 17623915 C RECESSIVE 0.0382878 1.55 AKAP13 2803 8041467 A RECESSIVE 0.0362968 0.75 AKAP13 2806 11638762 T DOMINANT 0.0384566 1.21 AKAP13 2809 338515 C RECESSIVE 0.0413126 0.23 SV2B 2816 2239994 A DOMINANT 0.0147181 0.77 SLCO3A1 2817 8037251 T RECESSIVE 0.0417847 1.39 SLCO3A1 2818 207970 T ADDITIVE 0.0381480 1.13 SLCO3A1 2819 7175812 C RECESSIVE 0.0047319 0.35 IGF1R 2823 1574213 A RECESSIVE 0.0270750 0.63 IGF1R 2824 11854132 A RECESSIVE 0.0238766 0.68 IGF1R 2825 7170035 G RECESSIVE 0.0201919 0.61 A2BP1 2828 12445131 C RECESSIVE 0.0445886 2.61 A2BP1 2832 12600141 T DOMINANT 0.0068865 0.79 A2BP1 2833 7191740 C ADDITIVE 0.0280927 0.85 A2BP1 2834 17144423 T DOMINANT 0.0421914 0.83 A2BP1 2835 2079753 T DOMINANT 0.0075058 0.79 TMC5 2837 1985395 C RECESSIVE 0.0063044 0.66 TMC5 2838 7198723 C RECESSIVE 0.0496953 0.66 GOT2 2842 30842 T DOMINANT 0.0187610 1.22 GOT2 2843 257634 C DOMINANT 0.0091372 1.26 GOT2 2844 257637 T DOMINANT 0.0086536 1.26 GOT2 2845 171786 T DOMINANT 0.0066105 1.27 GOT2 2846 257621 C DOMINANT 0.0092573 1.26 GOT2 2847 185397 T DOMINANT 0.0076979 1.26 GOT2 2848 11076262 G DOMINANT 0.0133323 1.24 GOT2 2849 6499976 A DOMINANT 0.0121080 1.24 GOT2 2850 1595181 A DOMINANT 0.0065869 1.27 GOT2 2851 10852565 C DOMINANT 0.0139807 1.24 GOT2 2852 4784986 T DOMINANT 0.0134433 1.24 GOT2 2853 6416775 C DOMINANT 0.0491326 1.21 PLCG2 2858 9646328 G RECESSIVE 0.0203369 0.77 MPHOSPH6 2859 12149621 T DOMINANT 0.0320370 0.82 MPHOSPH6 2860 4889467 C ADDITIVE 0.0142780 0.89 MPHOSPH6 2861 2081257 G RECESSIVE 0.0154834 0.34 MPHOSPH6 2862 4889476 G ADDITIVE 0.0065039 0.88 MPHOSPH6 2863 2967355 A ADDITIVE 0.0477083 0.91 MPHOSPH6 2864 2967370 A RECESSIVE 0.0162193 0.74 MPHOSPH6 2865 1862820 C RECESSIVE 0.0253166 0.75 MPHOSPH6 2866 2911391 G RECESSIVE 0.0218882 0.74 MPHOSPH6 2867 2967337 C RECESSIVE 0.0392984 0.53 CDH13 2868 12325628 G ADDITIVE 0.0393312 0.88 CDH13 2870 9940179 A DOMINANT 0.0396491 1.20 KIAA0182 2875 3815794 T RECESSIVE 0.0145556 1.37 KIAA0182 2876 736845 T ADDITIVE 0.0008466 0.80 KIAA0182 2877 9940601 A ADDITIVE 0.0081450 0.87 KIAA0182 2878 1049868 C RECESSIVE 0.0003614 0.54 KIAA0182 2879 1053328 A RECESSIVE 0.0030174 1.50 GAS7 2880 1558226 G DOMINANT 0.0349526 0.82 DNAH9 2882 2286305 T DOMINANT 0.0191343 0.80 RAB11FIP4 2884 9901334 T ADDITIVE 0.0147545 0.85 CA10 2887 11655715 T RECESSIVE 0.0182340 0.44 MSI2 2893 1477065 G RECESSIVE 0.0245468 0.72 MSI2 2894 4608395 C RECESSIVE 0.0461877 0.65 DNAH17 2897 7211232 T RECESSIVE 0.0028899 0.15 HRNBP3 2900 4313838 C RECESSIVE 0.0180130 0.75 HRNBP3 2901 4313839 C RECESSIVE 0.0259572 0.76 PTPRM 2911 1470323 T RECESSIVE 0.0136419 0.73 PTPRM 2912 11081352 T RECESSIVE 0.0027436 0.65 PTPRM 2913 2156236 T RECESSIVE 0.0077796 0.70 PTPRM 2914 5000485 T RECESSIVE 0.0039162 0.68 PTPRM 2915 1942958 T RECESSIVE 0.0065194 0.69 PTPRM 2916 8088354 A RECESSIVE 0.0033035 0.67 PTPRM 2917 649598 T RECESSIVE 0.0079161 0.70 PTPRM 2918 623258 T RECESSIVE 0.0056093 0.70 PTPRM 2920 619379 C RECESSIVE 0.0126593 0.72 PTPRM 2921 502843 T RECESSIVE 0.0253166 0.75 PTPRM 2922 552448 T RECESSIVE 0.0089282 0.70 PTPRM 2923 507445 T RECESSIVE 0.0183559 0.74 OSBPL1A 2929 6508259 A ADDITIVE 0.0014763 1.24 CHST9 2932 4800787 T DOMINANT 0.0105520 1.25 CHST9 2933 2162412 A ADDITIVE 0.0084702 1.15 CHST9 2934 9949654 C ADDITIVE 0.0105674 1.15 CHST9 2935 9965371 C ADDITIVE 0.0141501 1.23 CHST9 2936 1426879 G ADDITIVE 0.0351731 1.13 CHST9 2937 4800797 G ADDITIVE 0.0091123 1.16 CHST9 2938 9948409 A ADDITIVE 0.0303283 1.10 KIAA0427 2942 8095607 A ADDITIVE 0.0332070 1.27 KIAA0427 2949 1319945 G RECESSIVE 0.0326970 0.42 DCC 2951 17383821 G RECESSIVE 0.0163221 1.42 DCC 2954 9964026 G ADDITIVE 0.0398037 1.16 DCC 2959 8084200 A DOMINANT 0.0412987 0.83 DCC 2964 9953546 G RECESSIVE 0.0483463 2.57 DCC 2965 1394466 A RECESSIVE 0.0256019 1.26 DCC 2966 17504520 G RECESSIVE 0.0280368 1.26 DCC 2967 11876282 G RECESSIVE 0.0321682 1.25 DCC 2968 11876941 G RECESSIVE 0.0392771 1.24 DCC 2969 2270954 A RECESSIVE 0.0357727 1.94 NEDD4L 2970 7243469 G DOMINANT 0.0412457 0.77 NEDD4L 2971 4941312 T DOMINANT 0.0404941 0.77 NEDD4L 2972 17064338 C DOMINANT 0.0289103 0.76 CCBE1 2974 895005 T DOMINANT 0.0369089 1.20 TXNDC10 2975 507533 C ADDITIVE 0.0460221 1.21 TXNDC10 2976 12605752 A RECESSIVE 0.0283574 0.27 TXNDC10 2977 7227089 T RECESSIVE 0.0284949 0.27 TXNDC10 2978 1477992 G RECESSIVE 0.0331144 0.14 TXNDC10 2979 309228 A RECESSIVE 0.0279392 0.34 TXNDC10 2980 309251 C RECESSIVE 0.0406452 0.36 TXNDC10 2981 309242 G RECESSIVE 0.0087933 0.29 TXNDC10 2982 590974 T DOMINANT 0.0480823 1.19 DOK6 2983 9947842 C RECESSIVE 0.0143136 0.51 DOK6 2995 4438406 C DOMINANT 0.0044738 1.30 LDLR 3001 2738456 C RECESSIVE 0.0433496 0.75 RNF24 3005 241611 T DOMINANT 0.0004744 0.74 RNF24 3006 241612 A DOMINANT 0.0009164 0.75 RNF24 3007 6084530 C DOMINANT 0.0163967 0.81 PRNT 3009 2245220 T RECESSIVE 0.0374102 0.81 PRNT 3010 2756262 A ADDITIVE 0.0170211 0.91 PRNT 3011 2422932 A DOMINANT 0.0057154 1.27 PRNT 3012 6084858 C RECESSIVE 0.0489977 0.80 PRNT 3013 730999 T RECESSIVE 0.0394947 0.79 PLCB1 3021 6055577 A RECESSIVE 0.0167900 1.77 PLCB1 3022 2235212 A RECESSIVE 0.0331976 1.49 PLCB1 3023 6055601 A RECESSIVE 0.0212322 1.65 PLCB1 3024 13044527 A RECESSIVE 0.0432858 1.36 PLCB1 3025 6039117 T RECESSIVE 0.0489716 1.35 PLCB4 3028 6056454 G ADDITIVE 0.0159695 0.86 PLCB4 3029 4816126 A ADDITIVE 0.0314437 0.84 PLCB4 3030 2145266 C ADDITIVE 0.0193561 0.85 PLCB4 3031 2208295 C ADDITIVE 0.0116134 0.83 PLCB4 3032 6086808 T DOMINANT 0.0355663 0.82 JAG1 3036 3790158 A RECESSIVE 0.0152506 >5 JAG1 3037 3748477 T RECESSIVE 0.0152506 >5 JAG1 3038 3748478 T RECESSIVE 0.0152506 >5 MACROD2 3040 459322 C ADDITIVE 0.0377449 0.92 MACROD2 3042 4814383 G RECESSIVE 0.0026275 0.51 MACROD2 3044 1233763 C RECESSIVE 0.0153543 0.61 MACROD2 3045 1233769 G RECESSIVE 0.0336831 0.63 MACROD2 3047 175810 G RECESSIVE 0.0239964 0.57 MACROD2 3048 175805 T RECESSIVE 0.0464941 0.62 PTPRT 3052 6016664 G DOMINANT 0.0474778 1.19 PTPRT 3053 6029979 T DOMINANT 0.0496507 1.19 PTPRT 3054 6016798 C RECESSIVE 0.0216889 0.77 PTPRT 3055 2076082 A RECESSIVE 0.0254923 0.77 PTPRT 3056 6065482 C RECESSIVE 0.0271959 0.78 PTPRT 3057 6030395 T RECESSIVE 0.0330898 1.43 PTGIS 3064 12625166 T RECESSIVE 0.0300284 >5 BMP7 3066 162313 A RECESSIVE 0.0457414 2.24 BMP7 3068 1015985 A RECESSIVE 0.0457414 2.24 GNAS 3071 7121 T DOMINANT 0.0144299 1.27 CDH4 3073 1891490 A ADDITIVE 0.0135434 1.13 CDH4 3074 3752252 G DOMINANT 0.0086970 1.26 CDH4 3075 1970546 A ADDITIVE 0.0035930 1.21 CDH4 3086 6061845 G ADDITIVE 0.0156651 0.88 CDH4 3087 1891572 T DOMINANT 0.0372843 0.83 CDH4 3088 17811544 G DOMINANT 0.0279199 0.82 CDH4 3089 6142875 T DOMINANT 0.0249437 0.82 NCAM2 3090 2226806 C RECESSIVE 0.0022837 1.42 NCAM2 3091 2826349 G RECESSIVE 0.0183510 1.44 NCAM2 3092 2826351 A RECESSIVE 0.0203522 1.43 NCAM2 3094 11702660 A RECESSIVE 0.0344979 7.10 NCAM2 3095 232490 C DOMINANT 0.0133412 0.81 NCAM2 3096 232491 T DOMINANT 0.0081579 0.79 NCAM2 3097 2826815 T DOMINANT 0.0017598 0.76 NCAM2 3098 232509 T ADDITIVE 0.0078224 0.81 NCAM2 3099 232516 A DOMINANT 0.0163957 0.81 NCAM2 3100 2826818 G DOMINANT 0.0015795 0.76 NCAM2 3101 232424 T DOMINANT 0.0064791 0.79 NCAM2 3102 2826826 A DOMINANT 0.0026054 0.77 NCAM2 3103 232446 G DOMINANT 0.0060568 0.79 NCAM2 3104 2847461 T DOMINANT 0.0017547 0.76 NCAM2 3105 2826830 G ADDITIVE 0.0115585 0.81 NCAM2 3106 3787603 G ADDITIVE 0.0111789 0.82 SLC37A1 3113 12483006 A RECESSIVE 0.0195839 1.73 SLC37A1 3116 1788421 G DOMINANT 0.0073634 0.79 PDE9A 3117 2269139 T RECESSIVE 0.0363891 1.93 PDE9A 3118 2269143 A RECESSIVE 0.0319822 2.04 PDE9A 3119 2269173 G ADDITIVE 0.0048662 0.89 ASPHD2 3121 11913750 C DOMINANT 0.0310367 0.73 ASPHD2 3122 16982107 T DOMINANT 0.0360544 0.74 TTLL1 3124 5996268 C ADDITIVE 0.0470533 0.78 EFCAB6 3125 137746 C RECESSIVE 0.0364594 1.93 EFCAB6 3126 137767 T RECESSIVE 0.0254356 2.01 EFCAB6 3127 137801 A RECESSIVE 0.0333977 2.26 EFCAB6 3128 1013039 C RECESSIVE 0.0494874 1.87 EFCAB6 3129 5764302 G RECESSIVE 0.0254356 2.01 SULT4A1 3130 5764318 C RECESSIVE 0.0175703 0.50 SULT4A1 3131 2066915 C ADDITIVE 0.0262448 1.13 SULT4A1 3133 2285162 A RECESSIVE 0.0311834 0.69 SULT4A1 3134 2285166 T RECESSIVE 0.0307734 0.68 SULT4A1 3135 2285167 A RECESSIVE 0.0080914 0.46 SULT4A1 3137 5764367 T RECESSIVE 0.0352891 0.69 RIBC2 3138 5765397 A RECESSIVE 0.0330656 1.26 RIBC2 3139 2092101 G RECESSIVE 0.0292451 1.27 RIBC2 3140 5764751 C RECESSIVE 0.0338442 1.24 RIBC2 3141 5765425 A RECESSIVE 0.0188752 1.30

Example 2 Genotypes and Alleles that Contribute to Risk of BD or SZ

The same methods described above in Example 1 to identify SNPs that were differentially associated with BD or SZ. Specifically, this analysis examined alleles that contributed to a diagnosis of either BD or SZ. For example, a given SNP could enhance likelihood of diagnosis of both BD and SZ. Those SNPs that contribute to the likelihood of diagnosis of both diseases may be those SNPs that contribute the overlapping symptom pattern between BD and SZ, e.g. SNPs that contribute to mania, depression, or delusions.

Table 2 lists alleles and genotypes influencing a diagnosis of, or risk of developing, BD or SZ. 640 BD cases, and a randomly selected subset of 640 SZ cases, and 1378 neurologically normal controls were used to identify these alleles and genotypes. Briefly, BD cases and SZ cases were both considered cases and were coded as a 1 (or case) and each control was coded as 0. Combining BD and SZ in this manner identifies those SNPs that contribute to a diagnosis of, or risk of developing, broadly defined serious psychiatric illness (psychosis). Using this coding and genotypes provided by GAIN, case control analysis was performed using various genetic models (recessive, dominant and additive) in Golden Helix's SNP and Variation Suite v 7.0 (SVS™). Table 1 lists the gene, sequence ID, NCBI RS number, test allele, genetic model, odds ratio, and p-value for the comparison. In this example, an OR greater than 1 indicates that the subject has a greater likelihood of a BD or SZ diagnosis. Similarly, an OR less than 1 indicates that the subject has a lower likelihood of a BD or SZ diagnosis.

TABLE 2 Alleles and Genotypes Influencing Likelihood of Diagnosis of Bipolar or Schizophrenia Gene Sequence ID NCBI RS# Allele Model P Odds Ratio RP1-21O18.1 5 1000313 G ADDITIVE 0.023031 1.13 RP1-21O18.1 6 4501834 C ADDITIVE 0.010524 1.14 RP1-21O18.1 7 10803349 A ADDITIVE 0.007056 1.15 RP1-21O18.1 8 4661575 T RECESSIVE 0.002888 1.45 AGBL4-C1ORF165 13 11205538 C DOMINANT 0.003952 1.23 AGBL4-C1ORF165 14 7520784 A DOMINANT 0.005937 1.21 AGBL4-C1ORF165 15 10888622 G DOMINANT 0.010006 1.20 AGBL4-C1ORF165 16 4926759 C DOMINANT 0.015223 1.19 AGBL4-C1ORF165 17 1934368 C DOMINANT 0.020949 1.18 AGBL4-C1ORF165 19 3122291 T DOMINANT 0.001607 1.25 AGBL4-C1ORF165 20 3121512 C DOMINANT 0.001749 1.27 AGBL4-C1ORF165 21 3118215 A ADDITIVE 0.004611 1.23 AGBL4-C1ORF165 22 3118223 G ADDITIVE 0.003490 1.23 AGBL4-C1ORF165 23 3121273 G ADDITIVE 0.001892 1.23 AGBL4-C1ORF165 24 3127556 G ADDITIVE 0.003664 1.22 AGBL4-C1ORF165 25 3121518 A ADDITIVE 0.003788 1.21 AGBL4-C1ORF165 26 6669433 A ADDITIVE 0.004697 1.23 AGBL4-C1ORF165 27 7520773 T RECESSIVE 0.004313 1.38 LRP8 28 17785382 G RECESSIVE 0.000489 0.71 LRP8 29 5177 C ADDITIVE 0.002955 0.89 LRP8 30 11206127 A DOMINANT 0.001922 0.79 LRP8 31 869987 T DOMINANT 0.001601 0.79 LRP8 32 869988 C DOMINANT 0.001625 0.79 LRP8 33 2297660 A ADDITIVE 0.003823 0.89 LRP8 34 2297657 A RECESSIVE 0.004002 0.75 LRP8 35 4623641 T RECESSIVE 0.022652 0.79 PRKACB 39 589373 A ADDITIVE 0.045631 1.15 SLC6A17 40 17671169 A ADDITIVE 0.044442 1.11 SLC6A17 41 495959 T ADDITIVE 0.015930 0.82 SLC16A4 43 4498805 G ADDITIVE 0.026757 0.83 SLC16A4 44 2271885 C ADDITIVE 0.047401 1.32 SYT6 46 611514 A RECESSIVE 0.011843 0.80 NGF 47 7523654 T ADDITIVE 0.000414 1.31 NGF 48 11102924 G DOMINANT 0.001940 1.27 NGF 49 10776799 G DOMINANT 0.000102 1.34 NGF 50 4332358 T DOMINANT 0.000031 1.34 NGF 51 17033706 A DOMINANT 0.000303 1.33 SLC22A15 53 2488432 T DOMINANT 0.043650 0.87 PTGFRN 56 12090536 G RECESSIVE 0.009209 0.71 PTGFRN 57 7552382 G RECESSIVE 0.012344 0.73 PTGFRN 58 3829881 A DOMINANT 0.007166 1.24 CGN 60 10788807 G DOMINANT 0.049612 0.85 ATF6 63 905594 T ADDITIVE 0.009476 0.83 ATF6 66 1875762 T ADDITIVE 0.001909 0.80 ATF6 68 10918029 A ADDITIVE 0.000629 0.71 ATF6 79 2499854 G ADDITIVE 0.045617 0.88 OLFML2B 80 4657130 G RECESSIVE 0.001979 0.72 OLFML2B 81 4657131 A RECESSIVE 0.001212 0.70 OLFML2B 82 2490420 G RECESSIVE 0.002385 0.71 OLFML2B 83 4657132 G RECESSIVE 0.000790 0.71 OLFML2B 84 6691548 C RECESSIVE 0.000739 0.70 CACNA1E 92 553042 C DOMINANT 0.005496 1.22 CACNA1E 93 486708 T DOMINANT 0.009729 1.20 CACNA1E 94 17441683 A ADDITIVE 0.015582 1.21 CACNA1E 95 17494681 T ADDITIVE 0.014240 1.23 LAMC1 103 6658501 A DOMINANT 0.000552 0.76 LAMC1 104 4652772 G DOMINANT 0.001674 0.78 LAMC1 105 3935384 G DOMINANT 0.000298 0.75 LAMC1 106 10797829 A DOMINANT 0.000298 0.75 LAMC1 107 10911232 T RECESSIVE 0.003177 1.32 LAMC1 108 12091137 A DOMINANT 0.000146 0.75 LAMC1 109 12086466 T DOMINANT 0.000103 0.74 LAMC1 110 10797838 A DOMINANT 0.000079 0.74 LAMC1 111 10797839 T DOMINANT 0.000065 0.74 LAMC1 112 10752898 T DOMINANT 0.000043 0.73 LAMC1 113 10797842 G DOMINANT 0.000062 0.73 LAMC1 114 6424888 A DOMINANT 0.000122 0.74 LAMC1 115 20563 A DOMINANT 0.000133 0.75 LAMC1 116 3768617 A RECESSIVE 0.002595 1.32 LAMC1 117 7518957 A DOMINANT 0.000063 0.74 LAMC1 118 1360704 G RECESSIVE 0.001865 1.33 LAMC1 119 2274984 C DOMINANT 0.000253 0.75 LAMC1 120 2027085 A DOMINANT 0.000180 0.75 KCNH1 123 1340127 C DOMINANT 0.017478 0.83 KCNH1 129 7537388 C RECESSIVE 0.041062 1.56 KCNK2 132 4655272 A DOMINANT 0.006028 1.24 KCNK2 133 10494994 A DOMINANT 0.013011 1.20 KCNK2 134 12038695 C DOMINANT 0.008288 1.22 KCNK2 135 11120519 A ADDITIVE 0.002214 1.28 KCNK2 137 11120527 T DOMINANT 0.003193 1.24 USH2A 138 11120538 A DOMINANT 0.005019 1.23 USH2A 139 6674743 T DOMINANT 0.006689 1.22 USH2A 140 2677117 A DOMINANT 0.024546 1.17 USH2A 141 2677111 C DOMINANT 0.009890 1.20 ESRRG 143 12027901 C DOMINANT 0.019424 1.23 ESRRG 144 7529655 A RECESSIVE 0.019137 0.60 RYR2 156 16835170 C RECESSIVE 0.021686 1.31 RYR2 157 2779397 C DOMINANT 0.017430 0.84 RYR2 158 2779400 A DOMINANT 0.022488 0.85 FMN2 162 12122068 C ADDITIVE 0.005347 0.80 FMN2 163 10926223 C ADDITIVE 0.010874 0.80 FMN2 164 12130718 A ADDITIVE 0.011256 0.86 KCNF1 192 2884310 G ADDITIVE 0.045453 1.11 NAG 193 3805093 C ADDITIVE 0.048493 0.87 NAG 194 10206116 C ADDITIVE 0.032081 0.86 HS1BP3 195 3732157 A ADDITIVE 0.012752 1.19 HS1BP3 196 1047176 T DOMINANT 0.005932 1.22 HS1BP3 197 7586298 T ADDITIVE 0.027521 1.18 ASXL2 210 6747116 C DOMINANT 0.009733 1.22 CIB4 213 11694917 T ADDITIVE 0.034547 0.79 DPYSL5 215 12991828 G DOMINANT 0.039784 0.86 DPYSL5 216 6756245 C DOMINANT 0.047309 0.86 BRE 217 6706209 C DOMINANT 0.018802 0.84 BRE 221 6738887 C DOMINANT 0.044436 0.87 CRIM1 224 2160367 C RECESSIVE 0.024909 1.22 CRIM1 225 711252 T DOMINANT 0.016634 0.83 CRIM1 226 848556 T DOMINANT 0.000503 0.76 CRIM1 227 848553 C DOMINANT 0.022784 0.83 CRIM1 228 848552 G DOMINANT 0.011423 0.82 CRIM1 229 848547 G DOMINANT 0.015172 0.82 CRIM1 230 3770852 A DOMINANT 0.001510 0.80 CRIM1 233 3770833 A DOMINANT 0.003501 0.81 CRIM1 234 2293254 G DOMINANT 0.011868 0.83 CRIM1 235 2287082 T DOMINANT 0.001615 0.80 CRIM1 236 3755197 A DOMINANT 0.003015 0.81 CRIM1 237 11681392 T DOMINANT 0.000473 0.78 FEZ2 238 10189344 C DOMINANT 0.001795 0.80 FEZ2 239 10172196 A DOMINANT 0.000792 0.79 FEZ2 240 3770811 T DOMINANT 0.000125 0.76 FEZ2 241 1533949 T DOMINANT 0.001063 0.79 FEZ2 242 1533948 C DOMINANT 0.000233 0.77 FEZ2 243 1533946 G DOMINANT 0.000165 0.76 FEZ2 244 13406184 C DOMINANT 0.000122 0.76 FEZ2 245 17488036 G DOMINANT 0.000220 0.77 FEZ2 246 2022211 G DOMINANT 0.000419 0.77 FEZ2 247 10197570 T DOMINANT 0.001223 0.79 FEZ2 248 11691767 T DOMINANT 0.000737 0.79 FEZ2 249 10469898 G DOMINANT 0.001462 0.80 FEZ2 250 5003670 C DOMINANT 0.006521 0.82 CDC42EP3 252 15628 T ADDITIVE 0.032228 1.21 SLC8A1 253 6544318 A ADDITIVE 0.017655 0.81 SLC8A1 254 759384 C ADDITIVE 0.023659 0.84 SLC8A1 255 4952609 G ADDITIVE 0.023271 0.87 HAAO 256 13398984 T RECESSIVE 0.049160 0.72 HAAO 257 4564826 A ADDITIVE 0.003779 0.88 C2ORF34 261 786613 G DOMINANT 0.000401 1.28 C2ORF34 262 786616 G DOMINANT 0.008815 1.20 C2ORF34 263 786626 C DOMINANT 0.000284 1.29 C2ORF34 264 786624 T DOMINANT 0.000304 1.29 C2ORF34 265 1067343 A DOMINANT 0.007403 1.21 C2ORF34 266 1067386 G DOMINANT 0.000931 1.26 C2ORF34 267 1067383 G DOMINANT 0.006617 1.21 C2ORF34 268 1584885 C ADDITIVE 0.000081 1.32 C2ORF34 269 1067378 A DOMINANT 0.008498 1.21 C2ORF34 270 1067375 C DOMINANT 0.009726 1.20 C2ORF34 271 1067374 G DOMINANT 0.007631 1.21 C2ORF34 272 1067367 A DOMINANT 0.001689 1.25 C2ORF34 273 1065786 T DOMINANT 0.000625 1.27 C2ORF34 274 1067355 C DOMINANT 0.010313 1.20 C2ORF34 275 1085447 T DOMINANT 0.000515 1.28 C2ORF34 276 1067348 T DOMINANT 0.007260 1.21 C2ORF34 277 1067347 C DOMINANT 0.000360 1.29 C2ORF34 278 1067406 C DOMINANT 0.000404 1.29 C2ORF34 279 1067404 A DOMINANT 0.002957 1.24 C2ORF34 280 1067402 T DOMINANT 0.005635 1.22 C2ORF34 281 1067397 A DOMINANT 0.012315 1.20 C2ORF34 282 698792 A DOMINANT 0.010748 1.20 C2ORF34 283 786419 G DOMINANT 0.000789 1.27 C2ORF34 284 698793 C DOMINANT 0.007146 1.21 C2ORF34 285 2166453 G ADDITIVE 0.000143 1.28 C2ORF34 286 698809 A DOMINANT 0.015551 1.19 C2ORF34 287 698823 G DOMINANT 0.001215 1.26 C2ORF34 288 698824 C DOMINANT 0.000552 1.28 C2ORF34 289 698827 G DOMINANT 0.003581 1.23 C2ORF34 290 698828 T DOMINANT 0.006854 1.21 C2ORF34 291 698832 C DOMINANT 0.004858 1.22 C2ORF34 292 698833 T DOMINANT 0.004272 1.22 C2ORF34 293 786406 T DOMINANT 0.003550 1.23 C2ORF34 294 11888605 A DOMINANT 0.010202 1.21 C2ORF34 295 3862996 G DOMINANT 0.000228 1.31 C2ORF34 296 1011798 C ADDITIVE 0.003870 1.22 C2ORF34 297 729310 A DOMINANT 0.003360 1.24 C2ORF34 298 2341457 A DOMINANT 0.006713 1.22 C2ORF34 299 1377906 G DOMINANT 0.045305 1.15 C2ORF34 300 7609431 C DOMINANT 0.045594 1.15 C2ORF34 301 4953101 T DOMINANT 0.009825 1.20 C2ORF34 303 13383854 G DOMINANT 0.003965 1.24 C2ORF34 304 6721746 A RECESSIVE 0.002125 0.52 C2ORF34 305 7603180 G RECESSIVE 0.019588 0.61 C2ORF34 306 11679997 T RECESSIVE 0.005864 0.56 PRKCE 307 2881068 C ADDITIVE 0.031005 0.88 PRKCE 308 4952792 C RECESSIVE 0.012801 0.77 PRKCE 310 12989656 T DOMINANT 0.029417 1.17 EPAS1 311 1374749 A DOMINANT 0.002654 0.79 EPAS1 312 10178633 A DOMINANT 0.009113 0.81 EPAS1 313 13006131 G RECESSIVE 0.041003 1.18 AAK1 321 2312207 T DOMINANT 0.013618 0.82 CTNNA2 327 2566539 T ADDITIVE 0.032627 0.89 CTNNA2 332 7577376 G RECESSIVE 0.042889 1.83 CTNNA2 333 17018760 T RECESSIVE 0.027435 1.95 CTNNA2 334 1443897 C RECESSIVE 0.047455 1.84 CTNNA2 335 7576232 T RECESSIVE 0.036371 1.90 CTNNA2 336 7570531 C RECESSIVE 0.030140 1.97 CTNNA2 337 961408 G RECESSIVE 0.047146 1.84 CTNNA2 338 1446107 G RECESSIVE 0.019905 2.17 CTNNA2 339 1446108 A RECESSIVE 0.019950 2.17 CTNNA2 341 1965834 T ADDITIVE 0.037994 1.13 CTNNA2 342 1965833 G RECESSIVE 0.031176 1.74 CTNNA2 343 2165975 T RECESSIVE 0.039586 1.91 CTNNA2 344 6738092 C RECESSIVE 0.039410 1.92 INPP4A 345 17446058 G DOMINANT 0.020841 1.18 NAP5 346 12478698 C ADDITIVE 0.046440 0.85 NAP5 347 10174856 C ADDITIVE 0.035515 1.08 NAP5 348 1437904 T ADDITIVE 0.047914 1.07 NAP5 350 13421559 G RECESSIVE 0.020681 1.59 RAB3GAP1 351 10186594 G DOMINANT 0.018167 1.21 RAB3GAP1 352 17293519 G DOMINANT 0.026159 1.20 RAB3GAP1 353 2874739 T DOMINANT 0.022042 1.21 RAB3GAP1 355 3739028 G DOMINANT 0.036625 1.58 ZRANB3 356 1898524 T DOMINANT 0.040695 1.48 LRP1B 357 1492388 T RECESSIVE 0.005578 1.34 LRP1B 358 12479163 A RECESSIVE 0.007088 1.46 LRP1B 364 972485 A ADDITIVE 0.023486 1.17 LRP1B 366 1369528 G ADDITIVE 0.020164 0.86 LRP1B 367 6429927 G DOMINANT 0.012980 1.20 LRP1B 368 13408365 A DOMINANT 0.013165 1.20 LRP1B 369 10165154 C DOMINANT 0.015857 1.19 LRP1B 370 13418027 T DOMINANT 0.041922 1.17 FMNL2 395 1155779 C ADDITIVE 0.035232 0.86 FMNL2 396 1370504 G RECESSIVE 0.019686 1.49 FMNL2 397 10193104 A RECESSIVE 0.019152 1.48 PLA2R1 403 3828324 C RECESSIVE 0.028752 0.83 PLA2R1 404 3792189 C DOMINANT 0.001395 1.26 PLA2R1 405 4665138 T RECESSIVE 0.006305 0.80 PLA2R1 406 17241282 C RECESSIVE 0.001488 0.75 PLA2R1 407 17830904 G RECESSIVE 0.007897 0.80 KCNH7 408 9287822 C RECESSIVE 0.030714 0.57 KCNH7 409 9807929 T RECESSIVE 0.016298 0.54 KCNH7 410 4091356 T RECESSIVE 0.012100 0.54 SCN2A 412 353128 G RECESSIVE 0.004556 1.35 SCN1A 416 1824551 C RECESSIVE 0.008412 1.34 SCN1A 418 7607543 C RECESSIVE 0.047154 1.40 SCN1A 419 1461197 A RECESSIVE 0.006218 1.35 SCN1A 420 1824549 G RECESSIVE 0.012012 1.32 SCN1A 421 1381105 G RECESSIVE 0.014105 1.31 SCN9A 423 6756630 A RECESSIVE 0.024679 1.78 SCN9A 424 3924001 T ADDITIVE 0.008161 0.94 SCN9A 425 6747673 T RECESSIVE 0.025748 0.83 CERKL 432 1967351 C RECESSIVE 0.003041 0.74 PDE1A 438 16823124 A ADDITIVE 0.001819 1.20 PDE1A 439 1430158 C ADDITIVE 0.039304 1.18 PDE1A 440 10497597 T ADDITIVE 0.003065 1.25 TMEFF2 442 10497725 C RECESSIVE 0.015237 1.31 TMEFF2 445 4853492 T DOMINANT 0.011412 1.20 TMEFF2 446 10191803 T DOMINANT 0.011724 1.20 ALS2 447 6731583 C DOMINANT 0.034680 1.19 ABI2 448 10197623 T RECESSIVE 0.004368 1.53 PARD3B 453 17626122 C DOMINANT 0.008669 0.82 PARD3B 454 12469145 C DOMINANT 0.019983 0.84 ERBB4 460 10210330 T ADDITIVE 0.025685 1.14 ERBB4 461 4672668 G ADDITIVE 0.032214 1.14 COL4A4 482 13382950 C DOMINANT 0.015788 1.21 DNER 489 6733289 G ADDITIVE 0.031550 1.09 SAG 496 2241874 A RECESSIVE 0.006025 0.75 SAG 497 2241873 C RECESSIVE 0.008788 0.76 CENTG2 498 2292708 T ADDITIVE 0.027226 0.85 CENTG2 500 10929160 T RECESSIVE 0.028919 1.23 CNTN6 502 3902672 G DOMINANT 0.040582 0.85 CNTN6 505 155390 G ADDITIVE 0.009897 0.78 CNTN6 507 155391 C ADDITIVE 0.007737 0.77 CNTN4 518 2063896 A ADDITIVE 0.036403 0.92 CNTN4 519 12494838 G RECESSIVE 0.014353 0.73 CNTN4 523 163574 A ADDITIVE 0.000838 1.36 CNTN4 524 163352 G DOMINANT 0.029184 1.18 ITPR1 525 304041 G ADDITIVE 0.039812 1.06 IRAK2 531 696041 A RECESSIVE 0.013603 1.83 SLC6A1 536 1062246 G RECESSIVE 0.012815 0.76 GADL1 538 1494730 C DOMINANT 0.040974 0.86 FBXL2 539 9880596 C ADDITIVE 0.029534 1.12 CLASP2 544 7624319 G RECESSIVE 0.018826 1.31 CLASP2 545 7641020 G RECESSIVE 0.033987 1.21 ARPP-21 546 9811585 G DOMINANT 0.010468 1.20 ARPP-21 547 2278758 A RECESSIVE 0.002872 0.40 ARPP-21 548 2012153 G RECESSIVE 0.000352 0.74 ARPP-21 549 7621692 T RECESSIVE 0.016503 0.48 ARPP-21 550 6550367 C RECESSIVE 0.007170 0.80 ARPP-21 551 2305234 A RECESSIVE 0.011295 0.47 STAC 552 17186340 T RECESSIVE 0.037390 2.57 CAMKV 564 2883059 C RECESSIVE 0.003731 0.77 CACNA2D3 581 1467179 A DOMINANT 0.004411 1.24 CACNA2D3 582 1467178 T DOMINANT 0.002068 1.26 CACNA2D3 583 3773580 T DOMINANT 0.002278 1.24 CACNA2D3 584 17054677 A ADDITIVE 0.006768 1.27 CACNA2D3 585 3773569 A DOMINANT 0.001038 1.27 FLNB 588 12488636 C RECESSIVE 0.027938 1.29 FLNB 589 7373012 G RECESSIVE 0.006274 0.71 FHIT 590 639244 C DOMINANT 0.017999 0.84 FHIT 599 2736823 T DOMINANT 0.040257 0.86 CADPS 606 1812677 G ADDITIVE 0.019052 1.12 CADPS 607 1398623 G DOMINANT 0.004679 1.24 CADPS 608 304233 G ADDITIVE 0.014797 1.14 CADPS 609 526163 A ADDITIVE 0.023865 1.10 CADPS 610 9854059 T ADDITIVE 0.043479 1.08 SYNPR 611 6809418 T DOMINANT 0.020076 1.19 PRICKLE2 614 696016 A RECESSIVE 0.004590 2.69 PRICKLE2 615 696017 A RECESSIVE 0.008484 2.44 PRICKLE2 616 704398 G RECESSIVE 0.001129 3.04 PRICKLE2 617 697288 T RECESSIVE 0.001166 3.18 MAGI1 618 2222582 T ADDITIVE 0.024962 0.94 MAGI1 619 9859408 T ADDITIVE 0.014405 1.18 MAGI1 621 264705 A ADDITIVE 0.033436 1.16 FAM19A1 622 17140779 G ADDITIVE 0.025219 0.86 FAM19A1 623 11707519 G DOMINANT 0.013989 1.25 ROBO2 625 9882239 C ADDITIVE 0.004971 1.25 ROBO1 631 4564923 T ADDITIVE 0.027376 1.12 EPHA6 634 4571251 T ADDITIVE 0.039238 1.39 PLCXD2 640 9870533 A RECESSIVE 0.032427 0.59 PLCXD2 641 6807632 T ADDITIVE 0.026521 1.43 KALRN 643 6438827 G RECESSIVE 0.044675 >5 CPNE4 653 9843898 C RECESSIVE 0.029620 1.34 EPHB1 658 9819372 A RECESSIVE 0.019239 0.77 SERPINI1 675 2229697 A DOMINANT 0.047086 1.21 SLC7A14 677 12496334 C ADDITIVE 0.035840 0.85 SLC7A14 678 17289598 G ADDITIVE 0.031139 0.84 TNIK 679 6781167 A ADDITIVE 0.029134 1.18 TNIK 681 6445006 A RECESSIVE 0.022127 0.71 PLD1 688 187229 T DOMINANT 0.049571 0.87 PLD1 689 181715 A DOMINANT 0.034263 0.86 PLD1 690 360401 T DOMINANT 0.046942 0.87 PLD1 691 9822322 T DOMINANT 0.015150 1.20 PLD1 692 6781853 C DOMINANT 0.014711 1.20 PLD1 693 9881788 G DOMINANT 0.009027 1.22 PLD1 694 4894707 T DOMINANT 0.013833 1.20 PLD1 695 3774039 T DOMINANT 0.015297 1.20 PLD1 696 2290479 G DOMINANT 0.011224 1.20 PLD1 697 2290480 A ADDITIVE 0.011886 1.16 PLD1 698 7649974 G DOMINANT 0.030944 1.18 PLD1 699 6794454 C ADDITIVE 0.002987 1.22 PLD1 700 6769838 G RECESSIVE 0.004606 0.77 PLD1 701 13089252 T RECESSIVE 0.001562 0.75 NLGN1 702 1948162 G DOMINANT 0.018084 0.83 HTR3D 707 7430671 G ADDITIVE 0.025876 1.08 LEPREL1 709 1447948 A RECESSIVE 0.043390 0.70 IL1RAP 715 4624606 A ADDITIVE 0.020796 0.87 SLC2A9 719 7674711 C ADDITIVE 0.017265 1.23 SLC2A9 720 16890905 T ADDITIVE 0.011312 1.24 KCNIP4 735 16869851 C DOMINANT 0.001438 1.30 KCNIP4 736 2114474 T ADDITIVE 0.022544 1.19 KCNIP4 737 7689421 A ADDITIVE 0.023300 1.17 KCNIP4 738 7694208 G ADDITIVE 0.044093 1.17 KCNIP4 739 17623902 A RECESSIVE 0.014218 0.76 UBE2K 744 7697939 G ADDITIVE 0.024586 0.86 LIMCH1 746 17528515 C DOMINANT 0.019809 0.85 LIMCH1 747 13134348 A RECESSIVE 0.041170 1.52 LIMCH1 748 6838113 T ADDITIVE 0.002631 1.15 LIMCH1 749 6447080 G ADDITIVE 0.002666 1.16 LIMCH1 750 6447081 G ADDITIVE 0.002651 1.16 LIMCH1 751 7671360 T ADDITIVE 0.002916 1.14 LIMCH1 752 7674935 C ADDITIVE 0.036953 1.05 LIMCH1 753 4266323 T ADDITIVE 0.002949 1.15 LIMCH1 754 4610372 G ADDITIVE 0.000509 1.21 LIMCH1 755 7683275 G ADDITIVE 0.025159 1.10 LIMCH1 756 4861118 A ADDITIVE 0.001559 1.17 LIMCH1 757 6838196 C ADDITIVE 0.007764 1.14 LIMCH1 758 6447088 C ADDITIVE 0.002957 1.11 LIMCH1 764 2304651 A DOMINANT 0.042200 1.23 LIMCH1 765 7674006 C DOMINANT 0.011887 1.33 LPHN3 766 10008326 A ADDITIVE 0.022975 1.10 LPHN3 767 1397548 A ADDITIVE 0.029744 1.07 SHROOM3 786 3821979 A RECESSIVE 0.000811 0.34 SHROOM3 787 12640170 T RECESSIVE 0.004293 0.72 SHROOM3 788 10013334 T RECESSIVE 0.003336 0.42 SHROOM3 789 11734394 A RECESSIVE 0.007616 0.73 GPRIN3 792 7653897 A DOMINANT 0.018616 0.83 GPRIN3 793 7690986 G DOMINANT 0.033546 0.85 GRID2 798 7668740 T RECESSIVE 0.035881 0.79 GRID2 802 2164314 A RECESSIVE 0.032472 1.35 GRID2 803 13123140 C RECESSIVE 0.005195 1.29 GRID2 804 4693331 C RECESSIVE 0.004350 1.29 GRID2 805 7671794 A RECESSIVE 0.016565 1.33 GRID2 806 11932367 A RECESSIVE 0.018157 1.29 GRID2 807 6837139 C DOMINANT 0.030403 0.86 UNC5C 812 4529060 A DOMINANT 0.039558 1.17 UNC5C 813 10856918 G DOMINANT 0.005559 1.22 UNC5C 814 13121737 C DOMINANT 0.001643 1.27 UNC5C 815 13134684 T DOMINANT 0.000460 1.28 UNC5C 816 4103379 G DOMINANT 0.001489 1.28 UNC5C 817 6834411 G DOMINANT 0.001254 1.28 UNC5C 819 13148787 A DOMINANT 0.000128 1.31 PPP3CA 821 2732507 G RECESSIVE 0.033517 0.83 PPP3CA 822 2851048 C RECESSIVE 0.039359 0.83 PPP3CA 823 2851062 G RECESSIVE 0.003730 0.78 PPP3CA 824 2141145 T DOMINANT 0.016846 1.21 PPP3CA 825 1405686 T DOMINANT 0.021504 1.20 COL25A1 835 11098004 T ADDITIVE 0.033780 0.88 COL25A1 836 1563004 G ADDITIVE 0.022397 0.86 ANK2 842 1026975 G DOMINANT 0.024160 1.19 ANK2 846 11942005 G ADDITIVE 0.032895 1.15 ANK2 847 29355 G ADDITIVE 0.021642 1.23 ANK2 848 29319 A ADDITIVE 0.022271 1.21 PRSS12 851 4834679 T DOMINANT 0.009389 1.36 PRSS12 852 1514657 A DOMINANT 0.023109 1.31 PRSS12 853 2892812 C DOMINANT 0.041795 1.27 MAML3 854 6831959 A RECESSIVE 0.003586 1.28 MAML3 857 2604918 A RECESSIVE 0.015325 0.77 MAML3 862 6830177 A DOMINANT 0.030418 1.17 INPP4B 878 13138212 T RECESSIVE 0.018785 0.78 INPP4B 879 1497389 T RECESSIVE 0.010774 0.76 INPP4B 880 881611 G RECESSIVE 0.013646 0.78 INPP4B 881 6820463 T RECESSIVE 0.005003 0.71 INPP4B 882 17715707 G RECESSIVE 0.007255 0.72 POU4F2 883 2174304 A ADDITIVE 0.007872 0.81 POU4F2 884 10010958 T ADDITIVE 0.008797 0.82 POU4F2 885 6821387 A ADDITIVE 0.013700 0.87 POU4F2 886 1104532 A ADDITIVE 0.012404 0.83 POU4F2 887 6835151 A ADDITIVE 0.008051 0.81 POU4F2 888 1394279 C ADDITIVE 0.013437 0.82 DCLK2 891 12374344 T ADDITIVE 0.032894 0.88 CTSO 893 6854827 G DOMINANT 0.034372 1.16 CTSO 894 6832480 T DOMINANT 0.023229 1.18 CTSO 895 6536124 T DOMINANT 0.020871 1.18 FSTL5 897 6824038 T ADDITIVE 0.043324 0.87 FSTL5 898 1023957 C ADDITIVE 0.042148 0.87 FSTL5 899 13121013 A ADDITIVE 0.038681 0.89 FSTL5 900 17459954 T ADDITIVE 0.041918 0.89 FSTL5 901 2872800 A RECESSIVE 0.015723 0.82 FSTL5 902 7699959 A RECESSIVE 0.004355 0.78 FSTL5 903 10031537 T RECESSIVE 0.000485 0.74 FSTL5 904 7375994 A RECESSIVE 0.000021 0.48 FSTL5 905 13113862 A RECESSIVE 0.000106 0.50 FSTL5 906 4301062 C RECESSIVE 0.000016 0.50 FSTL5 907 4574362 C RECESSIVE 0.003856 0.78 FSTL5 908 13101933 T RECESSIVE 0.000176 0.44 FSTL5 909 4691039 T RECESSIVE 0.001018 0.64 PALLD 922 6817551 A RECESSIVE 0.003843 0.65 PALLD 923 3733656 T RECESSIVE 0.000789 0.62 PALLD 924 10023864 A RECESSIVE 0.002252 0.63 PALLD 925 1531254 A RECESSIVE 0.008089 0.67 PALLD 926 11733251 A RECESSIVE 0.005134 0.66 PALLD 927 10518037 T RECESSIVE 0.002405 0.63 ODZ3 930 10520541 G DOMINANT 0.016402 0.83 ODZ3 931 4862087 G DOMINANT 0.012773 0.83 ODZ3 932 17329750 C DOMINANT 0.010690 0.82 SEMA5A 944 150633 C RECESSIVE 0.024356 0.78 CTNND2 947 13358276 T RECESSIVE 0.000844 0.73 CTNND2 950 27520 C RECESSIVE 0.000179 1.38 CTNND2 951 2530215 C RECESSIVE 0.000031 1.43 DNAH5 959 17203442 G RECESSIVE 0.019214 0.59 MYO10 963 10045328 A DOMINANT 0.015841 1.75 BASP1 964 2929726 A ADDITIVE 0.004630 1.11 BASP1 965 2956564 G ADDITIVE 0.006795 1.10 BASP1 966 2929710 C ADDITIVE 0.007172 1.09 CDH10 967 7719252 G DOMINANT 0.008975 0.83 CDH10 969 1395025 C DOMINANT 0.005616 0.82 C1QTNF3 971 840391 G RECESSIVE 0.031427 0.81 C1QTNF3 972 840381 G DOMINANT 0.012639 1.19 C1QTNF3 973 299620 G DOMINANT 0.003622 0.81 ITGA1 980 13189973 T RECESSIVE 0.037140 0.69 ITGA1 981 4865747 T RECESSIVE 0.006946 0.49 ITGA1 982 17209947 A RECESSIVE 0.010415 0.51 ITGA1 983 10513000 G RECESSIVE 0.026389 0.74 ITGA1 984 10513001 G RECESSIVE 0.041671 0.76 ITGA1 985 6886404 C RECESSIVE 0.023463 0.73 ITGA1 987 16876270 C ADDITIVE 0.010615 1.52 ITGA2 989 1421937 C RECESSIVE 0.043339 0.76 ITGA2 990 3212528 A RECESSIVE 0.004249 3.74 ITGA2 991 3212544 T RECESSIVE 0.004262 3.74 ITGA2 992 3212545 A RECESSIVE 0.004271 3.74 ITGA2 993 2303125 G RECESSIVE 0.001769 4.68 ITGA2 994 12521915 G RECESSIVE 0.025294 0.79 ITGA2 995 3212634 C RECESSIVE 0.005785 4.05 ITGA2 996 2303120 A RECESSIVE 0.001769 4.68 PIK3R1 1013 6881033 G RECESSIVE 0.002456 0.78 FCHO2 1017 6877485 T RECESSIVE 0.028029 0.68 PDE8B 1026 6896093 G DOMINANT 0.033112 0.86 PDE8B 1027 17671243 A DOMINANT 0.026875 0.86 PDE8B 1028 11742730 G DOMINANT 0.043594 0.87 PDE8B 1029 11750661 A DOMINANT 0.027770 0.86 PDE8B 1033 335635 C RECESSIVE 0.007356 0.80 CMYA5 1044 12654905 G DOMINANT 0.010558 1.28 CMYA5 1045 6880680 G DOMINANT 0.011159 1.27 CMYA5 1046 1541813 G DOMINANT 0.004662 1.22 CMYA5 1047 7719553 A DOMINANT 0.000659 1.28 CMYA5 1048 7734306 T DOMINANT 0.000642 1.28 CMYA5 1049 1991483 G DOMINANT 0.003242 1.23 CMYA5 1051 259064 C RECESSIVE 0.002122 2.51 MEF2C 1052 454214 G DOMINANT 0.040096 1.17 MEF2C 1053 618298 T DOMINANT 0.034471 1.17 MEF2C 1054 625970 A DOMINANT 0.036148 1.17 MEF2C 1055 681446 A DOMINANT 0.040327 1.17 MEF2C 1056 679232 G DOMINANT 0.042695 1.17 GPR98 1061 27657 T RECESSIVE 0.002882 2.39 GPR98 1062 40205 C RECESSIVE 0.007956 2.11 GPR98 1064 10070074 C RECESSIVE 0.030660 0.80 GPR98 1065 2460177 G DOMINANT 0.021205 1.18 GPR98 1066 2222244 A DOMINANT 0.005160 1.22 GPR98 1068 16869425 C RECESSIVE 0.018577 2.67 GPR98 1069 1852731 C RECESSIVE 0.009231 2.75 FBXL17 1070 288180 T RECESSIVE 0.000857 0.48 FBXL17 1071 288173 C RECESSIVE 0.008117 0.57 FBXL17 1072 288172 G RECESSIVE 0.001858 0.50 FBXL17 1073 288146 A RECESSIVE 0.011604 0.65 FBXL17 1074 288144 A RECESSIVE 0.001779 0.50 FBXL17 1075 288139 T RECESSIVE 0.013779 0.66 FBXL17 1076 286753 T RECESSIVE 0.011156 0.65 FBXL17 1077 289227 C RECESSIVE 0.003804 0.53 FBXL17 1078 34428 T RECESSIVE 0.005606 0.56 FBXL17 1079 286769 T RECESSIVE 0.008358 0.61 FBXL17 1080 17385448 T RECESSIVE 0.009082 0.60 PJA2 1081 1862204 C DOMINANT 0.001308 1.27 PJA2 1082 784291 T DOMINANT 0.002544 1.25 PJA2 1083 11738695 C DOMINANT 0.002528 1.25 PJA2 1084 246103 G DOMINANT 0.006431 1.22 PJA2 1085 2963024 C DOMINANT 0.005544 1.22 PJA2 1086 2963046 T DOMINANT 0.008465 1.21 PJA2 1087 2914705 A DOMINANT 0.005301 1.22 PJA2 1088 2963028 C DOMINANT 0.004163 1.24 PJA2 1089 2963029 C DOMINANT 0.005706 1.22 PJA2 1090 2963031 A DOMINANT 0.001640 1.25 PJA2 1091 2963034 A DOMINANT 0.004623 1.22 PJA2 1092 2963013 C DOMINANT 0.005696 1.22 PJA2 1093 12514259 C DOMINANT 0.018478 1.19 ADAMTS19 1098 13158524 A ADDITIVE 0.025048 1.10 ADAMTS19 1099 1017201 T ADDITIVE 0.033907 1.11 ADAMTS19 1100 1972624 T ADDITIVE 0.011041 1.10 ADAMTS19 1101 30710 T ADDITIVE 0.009705 1.09 ADAMTS19 1102 30671 C ADDITIVE 0.005393 1.11 ADAMTS19 1103 25820 A ADDITIVE 0.001422 1.14 ADAMTS19 1104 30669 G ADDITIVE 0.013109 1.11 ADAMTS19 1105 30665 G ADDITIVE 0.002654 1.11 ADAMTS19 1106 30664 G ADDITIVE 0.007485 1.10 ADAMTS19 1107 30651 C ADDITIVE 0.014300 1.10 ADAMTS19 1108 4835975 A RECESSIVE 0.009838 1.30 VDAC1 1110 2066944 T ADDITIVE 0.026128 1.21 VDAC1 1112 4958172 A DOMINANT 0.022243 1.22 TRPC7 1113 7732110 A ADDITIVE 0.000694 1.17 TRPC7 1114 3734125 G ADDITIVE 0.001041 1.15 TRPC7 1115 10045073 G ADDITIVE 0.001245 1.14 TRPC7 1116 10060256 A RECESSIVE 0.022267 4.85 TRPC7 1117 7727558 G ADDITIVE 0.000761 1.20 TRPC7 1118 4976485 A ADDITIVE 0.010429 0.88 TRPC7 1119 10070699 G ADDITIVE 0.013025 0.87 TRPC7 1120 3777145 T ADDITIVE 0.015531 1.16 TRPC7 1121 4976368 A ADDITIVE 0.013223 0.87 TRPC7 1122 3822748 T ADDITIVE 0.013223 0.87 TRPC7 1123 950714 G ADDITIVE 0.015531 1.16 TRPC7 1124 953096 C ADDITIVE 0.011542 0.85 TRPC7 1125 2649691 A ADDITIVE 0.006170 1.16 TRPC7 1126 963590 C ADDITIVE 0.014941 0.83 TRPC7 1127 2673926 T ADDITIVE 0.000043 1.23 TRPC7 1128 2673925 T ADDITIVE 0.000050 1.24 TRPC7 1129 2649696 G ADDITIVE 0.000108 1.21 GRIA1 1130 2452801 G ADDITIVE 0.030501 1.09 GRIA1 1132 778825 A RECESSIVE 0.040823 1.24 ODZ2 1135 11134468 G RECESSIVE 0.006592 0.38 ODZ2 1136 7737681 A RECESSIVE 0.023441 0.55 ODZ2 1137 1549152 C RECESSIVE 0.009367 0.48 ODZ2 1139 2546957 C RECESSIVE 0.035689 1.26 ODZ2 1142 1960425 T DOMINANT 0.009361 1.22 ODZ2 1143 10447203 A ADDITIVE 0.005199 1.17 ODZ2 1144 11748886 G RECESSIVE 0.017496 >5 WWC1 1145 11748902 G RECESSIVE 0.004500 >5 WWC1 1148 10038727 A ADDITIVE 0.034029 0.91 WWC1 1149 4576167 C ADDITIVE 0.030218 0.91 KCNIP1 1151 906361 A ADDITIVE 0.000597 0.81 KCNIP1 1152 906359 G ADDITIVE 0.000882 0.81 KCNIP1 1153 906358 A ADDITIVE 0.000903 0.81 KCNIP1 1155 6555913 G RECESSIVE 0.007000 1.29 EXOC2 1159 6597037 A ADDITIVE 0.029028 1.25 EXOC2 1160 9503977 C ADDITIVE 0.038101 1.18 EXOC2 1161 4959273 A ADDITIVE 0.010099 1.23 EXOC2 1163 6940427 A ADDITIVE 0.038202 1.14 EXOC2 1164 1766835 C ADDITIVE 0.020589 1.15 EXOC2 1165 4960092 G ADDITIVE 0.007911 1.18 EXOC2 1166 2013853 G ADDITIVE 0.030903 1.14 EXOC2 1167 1747586 A ADDITIVE 0.016906 1.14 SERPINB6 1169 7751676 T DOMINANT 0.007640 1.32 SERPINB6 1170 1358869 C ADDITIVE 0.013337 1.25 ATXN1 1186 2237166 C RECESSIVE 0.020335 1.21 ATXN1 1187 2237164 G RECESSIVE 0.019501 1.22 ATXN1 1188 2073516 T ADDITIVE 0.034126 1.18 ATXN1 1189 909786 G ADDITIVE 0.027054 1.15 ATXN1 1190 760882 A ADDITIVE 0.002167 1.19 ATXN1 1191 6921608 C DOMINANT 0.005835 1.22 ATXN1 1192 719316 G ADDITIVE 0.000348 1.31 ATXN1 1193 1570487 T DOMINANT 0.005962 1.22 ATXN1 1194 11754887 C DOMINANT 0.013713 1.19 ATXN1 1195 1144695 A ADDITIVE 0.020507 1.19 SLC17A4 1196 4712972 A DOMINANT 0.017749 0.82 SLC17A4 1197 1892252 G DOMINANT 0.010305 0.81 SLC17A1 1199 1324082 A DOMINANT 0.014663 0.84 SLC17A1 1200 1165196 C ADDITIVE 0.040499 1.00 SLC17A1 1201 12182983 A DOMINANT 0.024179 0.85 SLC17A1 1202 6913879 C DOMINANT 0.018099 0.85 SLC17A1 1203 6905614 C ADDITIVE 0.009533 1.11 SLC17A1 1204 1324088 T DOMINANT 0.032943 0.84 SLC17A3 1205 1182814 G ADDITIVE 0.003071 0.82 SLC17A3 1206 1165165 A ADDITIVE 0.001545 0.80 SLC17A3 1207 1165162 A ADDITIVE 0.003673 0.83 SLC17A3 1208 1165158 T ADDITIVE 0.003926 0.83 SLC17A3 1209 1165207 A ADDITIVE 0.006364 1.09 SLC17A3 1210 523383 C DOMINANT 0.037395 0.84 SLC17A3 1211 1165205 A ADDITIVE 0.006296 1.09 BTN3A1 1212 4712986 G RECESSIVE 0.012582 1.91 BTN3A1 1213 12208788 A RECESSIVE 0.009747 2.04 BTN3A1 1215 10807008 C ADDITIVE 0.034023 1.15 BTN3A1 1216 17610161 A RECESSIVE 0.038234 2.07 MSH5 1218 707937 C RECESSIVE 0.019603 0.65 LRFN2 1219 846505 T DOMINANT 0.035993 0.85 PARC 1222 6938026 G DOMINANT 0.034030 0.85 TRDN 1240 1890467 C RECESSIVE 0.023215 0.49 TRDN 1241 9372744 G RECESSIVE 0.012248 0.48 TRDN 1242 1431291 G RECESSIVE 0.010469 0.45 TRDN 1243 7765003 A RECESSIVE 0.015667 0.47 TRDN 1248 6931183 A DOMINANT 0.019725 1.21 NKAIN2 1261 6906607 A ADDITIVE 0.042731 1.14 EYA4 1262 2027210 A DOMINANT 0.004507 1.25 EYA4 1263 17301622 G DOMINANT 0.000543 1.32 EYA4 1264 7454561 G DOMINANT 0.004285 1.25 EYA4 1265 12524250 A DOMINANT 0.004121 1.25 PDE7B 1269 9389370 G ADDITIVE 0.011134 0.88 PDE7B 1270 6931460 ADDITIVE 0.031841 0.58 PLAGL1 1271 11155338 T DOMINANT 0.005488 1.22 STX11 1273 6935462 A ADDITIVE 0.006308 1.39 UTRN 1274 6906465 G ADDITIVE 0.002849 1.23 UTRN 1275 9373430 A DOMINANT 0.039224 1.16 PARK2 1283 2064419 T RECESSIVE 0.027128 1.20 PARK2 1284 9364602 A RECESSIVE 0.020631 1.25 PACRG 1285 2763986 T RECESSIVE 0.000018 0.68 PACRG 1286 761625 A RECESSIVE 0.000138 0.71 PDE10A 1294 481701 C RECESSIVE 0.015732 2.29 NXPH1 1298 10085720 T DOMINANT 0.032211 0.86 NXPH1 1299 4455737 G DOMINANT 0.041509 0.87 NXPH1 1300 7456267 A DOMINANT 0.039360 0.86 NXPH1 1301 2349499 C DOMINANT 0.020655 0.85 NXPH1 1302 10257265 C DOMINANT 0.034891 0.86 NXPH1 1303 970526 G DOMINANT 0.034780 0.86 NXPH1 1304 970527 C DOMINANT 0.011590 0.83 NXPH1 1305 3779355 A ADDITIVE 0.029694 0.84 DGKB 1307 17167942 A DOMINANT 0.003092 1.24 DGKB 1308 6969690 G DOMINANT 0.007030 1.22 DGKB 1311 12699645 C ADDITIVE 0.011602 0.91 DGKB 1312 2049447 C ADDITIVE 0.007679 0.91 DGKB 1314 1981680 T RECESSIVE 0.017378 0.73 DGKB 1316 10277367 C RECESSIVE 0.033853 0.76 SNX13 1318 4543441 A ADDITIVE 0.027678 0.98 SNX13 1319 4544985 C ADDITIVE 0.033053 0.97 SNX13 1320 6970593 A ADDITIVE 0.030068 0.97 STK31 1323 13244337 G RECESSIVE 0.018236 1.55 CREB5 1330 2237361 C DOMINANT 0.043164 1.16 PDE1C 1335 7791180 G DOMINANT 0.034376 1.16 PDE1C 1336 10951305 T DOMINANT 0.049127 1.15 PDE1C 1337 4723103 T DOMINANT 0.018831 1.18 PDE1C 1338 3801350 T DOMINANT 0.001524 1.25 PDE1C 1339 12701142 G DOMINANT 0.001375 1.25 BMPER 1340 1365883 T RECESSIVE 0.029436 0.71 BMPER 1341 13244436 A RECESSIVE 0.043482 0.73 BMPER 1342 2110856 C RECESSIVE 0.033499 0.72 BMPER 1343 12672492 A RECESSIVE 0.033499 0.72 EEPD1 1345 2726113 T RECESSIVE 0.011127 1.66 VPS41 1349 2240355 A ADDITIVE 0.029219 1.13 VPS41 1350 10262154 T RECESSIVE 0.048068 0.82 VPS41 1353 10279367 A RECESSIVE 0.004238 0.71 VPS41 1360 4723793 G DOMINANT 0.047847 1.15 VPS41 1361 17680408 A RECESSIVE 0.006066 0.72 VPS41 1366 10951578 C RECESSIVE 0.009675 0.77 VPS41 1367 10255290 A RECESSIVE 0.035368 0.77 VPS41 1368 10255854 T RECESSIVE 0.036509 0.77 ABCA13 1373 17661073 C ADDITIVE 0.009969 1.26 ABCA13 1374 17132158 G ADDITIVE 0.010967 1.25 ABCA13 1377 17132163 T ADDITIVE 0.031656 1.16 ABCA13 1378 12113721 A ADDITIVE 0.028846 1.20 ABCA13 1379 2049514 T ADDITIVE 0.030707 1.17 ABCA13 1380 6583461 A DOMINANT 0.010862 0.82 ABCA13 1381 2049513 A ADDITIVE 0.030583 1.19 ABCA13 1382 11977113 A ADDITIVE 0.039820 1.15 ABCA13 1383 7802110 G ADDITIVE 0.024160 0.86 ABCA13 1384 7778020 A DOMINANT 0.004982 0.77 ABCA13 1385 4072503 G ADDITIVE 0.026352 0.81 ABCA13 1386 1317162 C ADDITIVE 0.027645 0.80 ABCA13 1387 12113920 T ADDITIVE 0.026352 0.81 ABCA13 1388 1918596 T ADDITIVE 0.035153 0.81 ABCA13 1389 1918588 A ADDITIVE 0.022262 0.81 ABCA13 1390 4144067 T ADDITIVE 0.046224 0.82 ABCA13 1391 7802150 A ADDITIVE 0.029891 0.79 ABCA13 1392 6965361 T ADDITIVE 0.015271 0.76 GRB10 1393 2244372 G DOMINANT 0.004744 0.81 GRB10 1394 2244353 T DOMINANT 0.004277 0.80 GRB10 1395 2244351 G DOMINANT 0.004587 0.81 GRB10 1396 2244347 C DOMINANT 0.015688 0.84 GRB10 1397 2237477 T DOMINANT 0.005297 0.82 GRB10 1398 2282931 T DOMINANT 0.013027 0.83 WBSCR17 1418 1001835 A ADDITIVE 0.009100 1.20 CALN1 1431 1914386 T RECESSIVE 0.026272 3.24 GTF2IRD1 1437 6953789 A DOMINANT 0.016620 1.19 MAGI2 1438 1860538 G DOMINANT 0.013668 1.21 MAGI2 1439 2075013 C DOMINANT 0.011336 1.21 MAGI2 1440 2075014 T RECESSIVE 0.022202 0.80 MAGI2 1445 7778707 G DOMINANT 0.042255 0.85 MAGI2 1446 1918935 A DOMINANT 0.019166 0.83 GRM3 1459 10239714 C ADDITIVE 0.044664 1.14 GRM3 1460 10280549 A ADDITIVE 0.035220 1.16 GRM3 1461 2299219 C ADDITIVE 0.035472 1.16 GRM3 1462 7804907 T ADDITIVE 0.031061 1.19 ADAM22 1463 1201841 G ADDITIVE 0.041241 0.78 ADAM22 1464 7799148 C RECESSIVE 0.034290 1.21 PPP1R9A 1475 2285694 A RECESSIVE 0.044675 >5 CUX1 1484 1725604 C ADDITIVE 0.000141 1.26 CUX1 1485 2257738 A DOMINANT 0.000605 1.27 NRCAM 1487 409797 C DOMINANT 0.011478 1.20 NRCAM 1488 441468 C RECESSIVE 0.044038 0.60 NRCAM 1490 2284280 A DOMINANT 0.005295 1.22 NRCAM 1491 404287 C DOMINANT 0.001819 1.25 NRCAM 1492 369800 G DOMINANT 0.003476 1.24 NRCAM 1493 425013 C DOMINANT 0.003512 1.23 NRCAM 1494 2023503 G RECESSIVE 0.021159 0.79 KCND2 1498 802372 C DOMINANT 0.009167 1.29 KCND2 1499 10488302 A DOMINANT 0.013025 1.30 CADPS2 1501 10267604 G DOMINANT 0.002823 0.81 CADPS2 1502 1154609 C DOMINANT 0.003229 0.81 CADPS2 1503 916982 G DOMINANT 0.028635 0.85 DGKI 1538 834054 T ADDITIVE 0.022104 0.45 CREB3L2 1541 1020961 T DOMINANT 0.005991 0.82 CREB3L2 1542 9757 G DOMINANT 0.007309 0.82 CREB3L2 1543 13232124 T RECESSIVE 0.003506 0.74 CREB3L2 1544 11972734 A RECESSIVE 0.004367 0.74 TBXAS1 1545 2267705 C ADDITIVE 0.037511 1.14 TBXAS1 1546 2269997 T ADDITIVE 0.011752 1.30 PTPRN2 1585 4909289 A ADDITIVE 0.047024 1.12 CSMD1 1587 688894 G DOMINANT 0.028176 0.85 MCPH1 1597 12546890 G RECESSIVE 0.028336 1.85 MCPH1 1601 11989215 G DOMINANT 0.034417 0.86 MCPH1 1602 1375668 G ADDITIVE 0.002813 0.81 MCPH1 1603 4455855 A ADDITIVE 0.007836 0.81 ANGPT2 1609 7825811 T ADDITIVE 0.009640 0.78 DLC1 1610 7824944 C ADDITIVE 0.041485 0.89 SLC7A2 1619 2720590 T RECESSIVE 0.020977 1.38 PSD3 1621 13259407 C RECESSIVE 0.025522 1.24 PSD3 1623 1386688 C DOMINANT 0.000444 1.31 PSD3 1624 7837572 T DOMINANT 0.000813 1.29 ATP6V1B2 1626 1106634 A ADDITIVE 0.000158 1.30 PEBP4 1637 2466195 C RECESSIVE 0.032095 1.40 SLC25A37 1639 3736032 A RECESSIVE 0.006306 6.08 SLC25A37 1640 10104250 T RECESSIVE 0.011315 8.91 SLC25A37 1641 10092233 G RECESSIVE 0.007312 9.72 UNC5D 1648 4739429 G ADDITIVE 0.035910 1.11 UNC5D 1649 2843933 T RECESSIVE 0.025249 1.21 SFRP1 1650 13276051 G RECESSIVE 0.011594 0.71 SFRP1 1652 7843510 G RECESSIVE 0.039906 0.83 PRKDC 1653 7841661 G DOMINANT 0.032346 1.28 SNTG1 1655 1486258 G RECESSIVE 0.015905 1.47 SNTG1 1658 2385554 T RECESSIVE 0.022557 1.44 SNTG1 1666 900958 T ADDITIVE 0.022660 1.10 SNTG1 1669 13260265 C ADDITIVE 0.044904 0.87 SNTG1 1670 12548940 C RECESSIVE 0.033654 0.70 TOX 1679 6471757 G RECESSIVE 0.009022 1.28 TOX 1680 4738738 C DOMINANT 0.034348 0.86 NKAIN3 1684 1993125 C ADDITIVE 0.035728 0.87 NKAIN3 1686 11787352 A ADDITIVE 0.047193 0.89 NKAIN3 1687 9298070 G RECESSIVE 0.031088 1.22 NKAIN3 1688 10100456 T RECESSIVE 0.018065 1.33 DEPDC2 1689 1434763 C RECESSIVE 0.004902 0.75 DEPDC2 1690 1434764 A RECESSIVE 0.014905 0.79 DEPDC2 1691 1014663 C RECESSIVE 0.043302 0.82 KCNB2 1692 13251896 G DOMINANT 0.034554 0.85 MMP16 1709 10106275 A RECESSIVE 0.007120 0.79 MMP16 1712 10504845 T DOMINANT 0.026150 1.18 GRHL2 1716 6992430 G DOMINANT 0.008103 1.22 GRHL2 1717 1357984 A DOMINANT 0.006790 1.22 GRHL2 1718 13275653 C DOMINANT 0.011414 1.21 GRHL2 1719 4734567 A RECESSIVE 0.001421 1.56 GRHL2 1720 4734038 T RECESSIVE 0.002126 1.36 GRHL2 1721 4734573 G RECESSIVE 0.004418 1.38 GRHL2 1722 3735715 G RECESSIVE 0.000255 1.43 GRHL2 1723 11994917 T RECESSIVE 0.000743 1.40 NCALD 1724 1131862 G ADDITIVE 0.027108 1.14 NCALD 1725 4734584 A RECESSIVE 0.004912 1.37 NCALD 1726 12681368 C RECESSIVE 0.001008 1.38 NCALD 1727 2226401 G RECESSIVE 0.023428 1.43 NCALD 1728 6468791 C RECESSIVE 0.001319 1.37 NCALD 1729 7829690 T ADDITIVE 0.004749 1.07 ZFPM2 1730 7816536 G DOMINANT 0.009659 0.83 ZFPM2 1731 10464844 G DOMINANT 0.010500 0.83 ZFPM2 1732 1383591 C DOMINANT 0.008786 0.83 ZFPM2 1733 11988529 C DOMINANT 0.008141 0.83 ZFPM2 1734 1383592 A DOMINANT 0.008265 0.83 ZFPM2 1735 16873003 C DOMINANT 0.003674 0.81 ZFPM2 1736 4734863 G DOMINANT 0.006262 0.82 ZFPM2 1737 7823133 T DOMINANT 0.006442 0.82 ZFPM2 1738 6992053 A DOMINANT 0.008970 0.83 ZFPM2 1739 1481026 T DOMINANT 0.008876 0.83 ZFPM2 1740 6981187 G DOMINANT 0.008594 0.83 ZFPM2 1741 7007352 G RECESSIVE 0.020585 0.40 CSMD3 1763 4876502 C DOMINANT 0.049394 1.17 SAMD12 1766 4876815 G DOMINANT 0.004186 0.81 SAMD12 1767 13263320 A DOMINANT 0.016429 1.20 FER1L6 1771 4355755 T RECESSIVE 0.009814 1.44 FER1L6 1772 16893054 T RECESSIVE 0.006023 1.48 FER1L6 1773 4870877 T ADDITIVE 0.001558 1.08 FER1L6 1774 4871437 C ADDITIVE 0.027223 1.06 FER1L6 1775 7838453 A ADDITIVE 0.034326 1.07 FER1L6 1776 7842762 C ADDITIVE 0.043442 1.03 MTSS1 1781 3901290 C ADDITIVE 0.017417 1.24 MTSS1 1782 10956198 G DOMINANT 0.017463 1.20 COL22A1 1789 6577934 A DOMINANT 0.005571 1.26 COL22A1 1790 7017524 A DOMINANT 0.010750 1.24 COL22A1 1792 7818881 C RECESSIVE 0.007364 0.80 COL22A1 1793 10090299 C RECESSIVE 0.010095 0.81 COL22A1 1794 7838300 C RECESSIVE 0.010325 0.81 COL22A1 1795 7838450 C RECESSIVE 0.010221 0.81 SMARCA2 1803 13288443 G ADDITIVE 0.022779 0.83 SMARCA2 1804 7035991 T ADDITIVE 0.024016 0.84 SMARCA2 1805 3829070 C RECESSIVE 0.028265 2.14 SMARCA2 1808 10738600 T DOMINANT 0.004771 0.81 KIAA1797 1821 7021708 G RECESSIVE 0.038416 1.24 KIAA1797 1823 10511687 G RECESSIVE 0.019549 1.29 IFT74 1830 7035755 G DOMINANT 0.015964 1.22 IFT74 1831 7039400 A DOMINANT 0.017917 1.22 IFT74 1834 10812518 T RECESSIVE 0.019272 1.58 IFT74 1835 17694631 C DOMINANT 0.013654 1.24 IFT74 1836 2095405 C DOMINANT 0.032978 1.17 TEK 1837 1591355 G DOMINANT 0.037968 1.17 PIP5K1B 1839 7861710 C RECESSIVE 0.026362 1.27 PIP5K1B 1840 4237268 G RECESSIVE 0.049598 1.23 TMC1 1857 7044235 A DOMINANT 0.041657 0.85 TMC1 1858 7044241 A DOMINANT 0.028447 0.84 TMC1 1859 7855743 G DOMINANT 0.021116 0.83 TMC1 1860 4373587 T DOMINANT 0.030872 0.85 TMC1 1861 13285932 T DOMINANT 0.008895 1.21 TMC1 1862 969205 A RECESSIVE 0.010827 0.59 TMC1 1863 1663740 T RECESSIVE 0.008185 0.58 TMC1 1864 1796991 G RECESSIVE 0.008851 0.58 TMC1 1865 2256491 C RECESSIVE 0.008288 0.58 TMC1 1866 2589609 T RECESSIVE 0.006119 0.57 TMC1 1867 7860172 A RECESSIVE 0.014842 2.04 TMC1 1868 12000987 T DOMINANT 0.045381 0.78 GNAQ 1874 10869954 A DOMINANT 0.015380 1.21 GNAQ 1875 10869955 A RECESSIVE 0.003435 0.79 GNAQ 1876 12551478 C DOMINANT 0.014351 1.19 GNAQ 1877 6560612 T DOMINANT 0.041744 1.15 GNAQ 1878 10869960 T DOMINANT 0.047659 1.15 GNAQ 1882 10781482 T RECESSIVE 0.042270 1.41 SHC3 1902 1125467 C ADDITIVE 0.033919 1.15 SHC3 1903 9410299 C ADDITIVE 0.007328 0.86 SHC3 1904 7868553 T RECESSIVE 0.046564 1.24 DIRAS2 1905 690474 G ADDITIVE 0.022096 1.11 DIRAS2 1907 7028171 A RECESSIVE 0.044570 0.77 NFIL3 1909 7038686 A DOMINANT 0.016229 1.19 GABBR2 1911 16914425 T ADDITIVE 0.045254 1.44 GRIN3A 1915 9299345 T ADDITIVE 0.028101 0.84 GRIN3A 1921 1853447 T ADDITIVE 0.026043 0.87 GRIN3A 1923 4742823 A DOMINANT 0.028114 0.84 GRIN3A 1925 2506362 C ADDITIVE 0.015761 0.92 FKTN 1929 2768290 G ADDITIVE 0.031902 0.87 FKTN 1930 2768294 G DOMINANT 0.046703 0.87 FKTN 1931 2518106 A ADDITIVE 0.048622 0.87 PALM2 1932 1358912 A ADDITIVE 0.020090 1.06 PALM2 1933 10739282 A RECESSIVE 0.025066 1.24 PALM2 1934 4978848 G ADDITIVE 0.024272 1.07 PALM2 1935 2025878 A RECESSIVE 0.036827 1.21 PALM2 1936 4246875 A RECESSIVE 0.026623 1.22 MUSK 1940 3001115 T ADDITIVE 0.026372 1.13 MUSK 1943 1184926 T ADDITIVE 0.042279 0.85 DFNB31 1948 2274160 T RECESSIVE 0.005390 1.51 DFNB31 1949 731421 T RECESSIVE 0.030474 0.71 DFNB31 1950 10817607 G RECESSIVE 0.025753 0.70 DFNB31 1951 7875262 T RECESSIVE 0.033082 0.71 DFNB31 1952 10081699 G RECESSIVE 0.013955 1.43 DFNB31 1953 10739411 G ADDITIVE 0.026062 0.92 DFNB31 1954 10982213 A RECESSIVE 0.020370 0.70 DFNB31 1955 1408527 C RECESSIVE 0.015767 1.41 PAPPA 1963 10759836 T RECESSIVE 0.005237 0.72 PAPPA 1964 13285093 C DOMINANT 0.029229 1.17 ASTN2 1976 10759876 A DOMINANT 0.003467 1.24 ASTN2 1977 3849144 G DOMINANT 0.004674 1.23 ASTN2 1978 12350890 A DOMINANT 0.013281 1.25 ASTN2 1979 10817968 A ADDITIVE 0.026212 1.24 ASTN2 1983 1928998 G ADDITIVE 0.038135 1.19 ASTN2 1984 10983518 C RECESSIVE 0.016127 0.68 ASTN2 1985 13298697 A RECESSIVE 0.047152 0.72 RAB14 1992 2302498 A RECESSIVE 0.015476 0.80 GSN 1993 12376078 A DOMINANT 0.003682 1.47 GSN 1994 10985207 G DOMINANT 0.005065 1.46 GSN 1996 767770 T DOMINANT 0.000187 1.69 TTLL11 1998 10818618 C RECESSIVE 0.039629 0.73 NEK6 2017 749355 A ADDITIVE 0.030480 1.23 TSC1 2031 7874234 T ADDITIVE 0.011367 0.84 VAV2 2032 10993790 T DOMINANT 0.003427 1.26 VAV2 2033 7855899 C RECESSIVE 0.003355 1.68 VAV2 2034 3780737 T RECESSIVE 0.004754 0.47 VAV2 2035 7038256 T RECESSIVE 0.025434 0.51 VAV2 2036 7025939 C RECESSIVE 0.023272 0.49 NOTCH1 2041 11145770 T RECESSIVE 0.002492 0.74 CACNA1B 2042 2168526 T RECESSIVE 0.024854 1.69 CACNA1B 2043 10780196 A RECESSIVE 0.027471 1.69 CACNA1B 2044 7028989 T RECESSIVE 0.017789 1.75 CACNA1B 2045 12005780 C RECESSIVE 0.012863 1.84 CACNB2 2051 2357928 G ADDITIVE 0.012595 0.91 CACNB2 2053 11014484 C DOMINANT 0.024884 0.85 CACNB2 2054 12416052 C RECESSIVE 0.004716 1.31 CACNB2 2055 12257556 G RECESSIVE 0.002839 1.29 CACNB2 2056 4748474 G RECESSIVE 0.007791 1.26 CACNB2 2057 4237348 C DOMINANT 0.041066 0.85 CACNB2 2058 12764916 T DOMINANT 0.031006 0.86 CACNB2 2059 4628581 C DOMINANT 0.023338 0.84 CACNB2 2060 7910506 G DOMINANT 0.014403 1.19 CACNB2 2062 10828859 C RECESSIVE 0.008707 1.28 ARMC3 2063 10828371 T RECESSIVE 0.021711 1.49 ARMC3 2064 17440393 A RECESSIVE 0.006511 1.67 ARMC3 2065 7084413 C RECESSIVE 0.018948 1.40 MYO3A 2068 1339814 T RECESSIVE 0.022947 1.28 MYO3A 2069 1416860 T RECESSIVE 0.025959 1.28 MYO3A 2070 7899567 A RECESSIVE 0.029350 1.27 MYO3A 2071 11014934 G RECESSIVE 0.017798 1.30 MYO3A 2072 12246202 C RECESSIVE 0.042753 1.27 MYO3A 2073 12263990 G RECESSIVE 0.046502 1.25 MYO3A 2074 7095559 A RECESSIVE 0.024761 1.28 MYO3A 2075 12258453 T RECESSIVE 0.026415 1.28 PRKG1 2078 6479874 T RECESSIVE 0.014762 1.91 PRKG1 2084 293244 A ADDITIVE 0.020720 1.21 PCDH15 2090 2610922 A RECESSIVE 0.018308 3.44 PCDH15 2092 4465289 C RECESSIVE 0.017216 1.69 PCDH15 2093 1020203 G DOMINANT 0.003999 0.79 PCDH15 2094 2384413 T DOMINANT 0.003476 0.79 PCDH15 2095 7477283 T DOMINANT 0.005120 0.80 PCDH15 2096 10740578 C DOMINANT 0.001890 0.78 PCDH15 2097 7919293 G DOMINANT 0.006251 0.80 PCDH15 2098 2384419 G DOMINANT 0.004336 0.79 PCDH15 2099 2891506 T DOMINANT 0.003985 0.79 PCDH15 2100 997066 A DOMINANT 0.015385 0.84 PCDH15 2101 857374 C DOMINANT 0.022635 0.85 PCDH15 2102 1342281 T DOMINANT 0.018736 0.85 PCDH15 2103 857395 C DOMINANT 0.017903 0.85 PCDH15 2104 11004267 A DOMINANT 0.009219 0.83 PCDH15 2105 11004270 T DOMINANT 0.029388 0.86 PCDH15 2106 7069188 C RECESSIVE 0.014258 1.46 PCDH15 2108 7474541 C RECESSIVE 0.016106 1.51 PCDH15 2109 3902590 G RECESSIVE 0.012226 1.54 ANK3 2115 7907721 A RECESSIVE 0.033308 0.79 ANK3 2116 4948254 A RECESSIVE 0.023395 1.27 JMJD1C 2124 10995505 A RECESSIVE 0.026757 1.44 JMJD1C 2126 10761747 G RECESSIVE 0.016333 1.50 CTNNA3 2128 10509256 A RECESSIVE 0.041901 0.68 CTNNA3 2129 3911783 A ADDITIVE 0.040526 1.09 CTNNA3 2140 7893145 C DOMINANT 0.000786 0.79 CTNNA3 2141 7922094 C DOMINANT 0.007206 1.21 CTNNA3 2142 7907580 T DOMINANT 0.008743 1.21 CTNNA3 2143 10997420 C RECESSIVE 0.014850 1.23 CTNNA3 2144 1925605 T RECESSIVE 0.049015 1.19 CTNNA3 2154 2448547 G DOMINANT 0.022824 0.75 CTNNA3 2155 2616687 G DOMINANT 0.011127 0.79 KCNMA1 2165 2569360 C RECESSIVE 0.027821 1.22 KCNMA1 2166 2569361 C RECESSIVE 0.021437 1.23 KCNMA1 2167 4980107 C RECESSIVE 0.041453 1.20 KCNMA1 2168 10762731 G RECESSIVE 0.024986 1.22 KCNMA1 2169 4980113 C RECESSIVE 0.032402 1.21 KCNMA1 2170 10762732 T RECESSIVE 0.034144 1.20 KCNMA1 2173 3781158 T DOMINANT 0.019022 0.85 KCNMA1 2174 2131216 T DOMINANT 0.019030 0.84 KCNMA1 2175 10509378 A DOMINANT 0.007199 0.83 KCNMA1 2176 12219498 T DOMINANT 0.015542 0.84 NRG3 2184 1124744 A DOMINANT 0.002015 1.29 NRG3 2186 11595839 G ADDITIVE 0.025402 1.27 NRG3 2187 474496 G DOMINANT 0.005874 1.21 NRG3 2188 495978 A DOMINANT 0.006781 1.21 SORBS1 2190 11188287 G RECESSIVE 0.021191 1.53 SORBS1 2193 7080545 C ADDITIVE 0.043587 0.86 SORBS1 2194 11188327 C DOMINANT 0.007510 1.21 PIK3AP1 2196 7448 G RECESSIVE 0.005100 1.37 PIK3AP1 2197 1983831 A RECESSIVE 0.006490 1.34 PIK3AP1 2198 912480 G RECESSIVE 0.002642 1.44 PIK3AP1 2199 7914154 C RECESSIVE 0.010974 1.33 SLIT1 2201 2817688 G DOMINANT 0.007821 1.21 SLIT1 2202 2636815 A DOMINANT 0.006388 1.23 SLIT1 2203 2817666 A DOMINANT 0.004951 0.81 SORCS3 2209 1387827 A ADDITIVE 0.021458 1.03 SORCS3 2210 973190 T ADDITIVE 0.016671 1.09 SORCS3 2211 2496029 A ADDITIVE 0.021204 1.09 SORCS3 2213 2451492 T DOMINANT 0.049209 0.87 SORCS3 2214 2451498 C DOMINANT 0.041030 0.86 SORCS3 2215 2177744 C DOMINANT 0.022268 1.18 SORCS3 2217 7072425 A DOMINANT 0.037455 1.22 VTI1A 2218 10509963 A RECESSIVE 0.045868 0.78 ATRNL1 2220 1264764 C ADDITIVE 0.024878 0.87 ATRNL1 2223 12767028 C DOMINANT 0.017014 1.20 ATRNL1 2224 7922670 G DOMINANT 0.022609 1.19 ATRNL1 2225 11197255 G DOMINANT 0.019749 1.20 ATRNL1 2228 11197294 T DOMINANT 0.027662 1.19 ATRNL1 2230 2804192 A ADDITIVE 0.029904 1.14 ATRNL1 2231 7095798 T DOMINANT 0.034822 1.18 ATRNL1 2232 2804204 T ADDITIVE 0.031879 1.15 ATRNL1 2233 2804207 C ADDITIVE 0.032750 0.90 ATRNL1 2234 1590734 G ADDITIVE 0.026976 1.17 ATRNL1 2235 1590733 G ADDITIVE 0.025347 1.18 ATRNL1 2236 10787584 T ADDITIVE 0.008453 1.20 ATRNL1 2237 11197337 T ADDITIVE 0.027025 1.18 ATRNL1 2238 2804249 G ADDITIVE 0.026115 0.91 ATRNL1 2239 2420098 G ADDITIVE 0.029450 0.90 HSPA12A 2241 12777585 G RECESSIVE 0.015733 1.38 NANOS1 2244 9325559 T ADDITIVE 0.019015 0.88 ATE1 2251 7086628 G ADDITIVE 0.038812 0.92 ATE1 2252 1693682 A RECESSIVE 0.028622 0.82 ATE1 2256 10510102 G RECESSIVE 0.020025 1.61 EBF3 2265 10829666 A ADDITIVE 0.008326 0.83 CEND1 2269 11246327 T DOMINANT 0.016652 0.82 HCCA2 2270 11029977 T ADDITIVE 0.026816 1.12 HCCA2 2271 1554855 C ADDITIVE 0.006336 1.15 HCCA2 2272 4881740 T ADDITIVE 0.003597 1.17 HCCA2 2273 7396009 T ADDITIVE 0.002743 1.18 DUSP8 2274 1108991 G ADDITIVE 0.002643 1.18 DUSP8 2275 6578475 C ADDITIVE 0.000799 1.29 DUSP8 2276 6578476 G ADDITIVE 0.003429 1.15 DUSP8 2277 10734456 C DOMINANT 0.026547 1.17 STIM1 2278 7924984 A DOMINANT 0.024698 1.17 TRIM21 2279 10835979 G ADDITIVE 0.009525 1.32 GALNTL4 2281 7120631 T ADDITIVE 0.032773 0.94 GALNTL4 2283 901553 C RECESSIVE 0.047890 1.23 MICAL2 2287 11022241 A RECESSIVE 0.045635 1.20 MICAL2 2288 10437600 A RECESSIVE 0.011587 0.62 MICAL2 2290 12807026 C ADDITIVE 0.013182 0.86 SPON1 2291 2697852 G DOMINANT 0.049783 0.87 SPON1 2292 1969542 C DOMINANT 0.007499 0.83 SPON1 2293 7116230 A ADDITIVE 0.020903 0.88 SPON1 2294 11023051 C DOMINANT 0.031882 0.85 SPON1 2295 1528668 C ADDITIVE 0.032120 0.89 SPON1 2296 11601500 C ADDITIVE 0.024398 0.88 SPON1 2297 10832163 T ADDITIVE 0.018945 0.88 SPON1 2298 11023054 A ADDITIVE 0.023861 0.88 SPON1 2299 10832165 A ADDITIVE 0.025929 0.89 SPON1 2300 11023055 G ADDITIVE 0.024777 0.89 SPON1 2301 7112850 A ADDITIVE 0.009613 0.86 SPON1 2302 10766134 G ADDITIVE 0.018251 0.92 SPON1 2303 12283632 A DOMINANT 0.024620 0.85 SPON1 2304 11023067 G DOMINANT 0.013934 0.84 SPON1 2305 882667 G DOMINANT 0.010949 1.22 SPON1 2306 1528641 A DOMINANT 0.014322 1.21 SPON1 2307 7116296 T DOMINANT 0.027466 1.19 SPON1 2308 11023088 T DOMINANT 0.025094 1.19 SPON1 2309 1864658 C DOMINANT 0.047272 0.87 SPON1 2310 4757244 A DOMINANT 0.049295 0.87 SPON1 2313 4756787 C RECESSIVE 0.010483 0.45 USH1C 2314 4756895 T RECESSIVE 0.030914 1.22 USH1C 2315 1055581 G DOMINANT 0.002232 0.78 USH1C 2316 2072230 T RECESSIVE 0.002686 1.34 USH1C 2317 16934376 C RECESSIVE 0.044775 0.23 OTOG 2318 10832822 A ADDITIVE 0.011682 0.80 PTPN5 2329 4757718 G ADDITIVE 0.030868 1.13 NAV2 2330 10500860 C ADDITIVE 0.005524 1.18 NAV2 2331 1559665 G RECESSIVE 0.026395 1.20 NAV2 2332 1559666 C ADDITIVE 0.023490 1.09 NAV2 2334 4757841 G ADDITIVE 0.019763 0.92 NAV2 2335 10766590 A ADDITIVE 0.020748 1.06 NAV2 2336 10734284 T ADDITIVE 0.012674 1.10 NAV2 2337 10741800 C ADDITIVE 0.021872 1.08 NAV2 2338 11025246 C RECESSIVE 0.007488 1.31 NAV2 2340 2255677 A DOMINANT 0.019534 1.19 NAV2 2341 10732471 T ADDITIVE 0.023843 0.89 NAV2 2342 1470254 T ADDITIVE 0.039435 0.89 NAV2 2343 1470253 C ADDITIVE 0.041924 0.88 NAV2 2344 1470251 A ADDITIVE 0.025843 0.86 SLC6A5 2345 1443548 T DOMINANT 0.024295 1.18 SLC6A5 2346 4922798 G RECESSIVE 0.011680 1.37 SLC6A5 2347 10766703 A RECESSIVE 0.011211 1.37 SLC6A5 2348 10741848 T RECESSIVE 0.038041 1.21 SLC6A5 2349 10741849 G RECESSIVE 0.043513 1.20 SLC6A5 2350 4454712 T RECESSIVE 0.004974 1.32 SLC6A5 2351 2276431 A RECESSIVE 0.009040 1.32 KCNA4 2353 11030913 C DOMINANT 0.023874 0.84 KCNA4 2354 524373 G ADDITIVE 0.009368 1.26 KCNA4 2355 10835607 A DOMINANT 0.021842 0.84 KCNA4 2356 536830 C ADDITIVE 0.010851 1.23 LRRC4C 2357 2953310 C ADDITIVE 0.036554 1.09 LRRC4C 2358 7943560 G ADDITIVE 0.012296 1.17 LRRC4C 2359 10160235 T RECESSIVE 0.040393 1.26 LRRC4C 2360 4237677 C DOMINANT 0.031520 1.17 LRRC4C 2361 4237678 G DOMINANT 0.000965 1.29 LRRC4C 2372 1377106 T DOMINANT 0.042343 0.83 LRRC4C 2375 10837391 G ADDITIVE 0.009622 1.14 PHACS 2379 7950395 T DOMINANT 0.038936 1.19 PHACS 2380 113080 G ADDITIVE 0.011000 0.89 PHACS 2381 2285029 A ADDITIVE 0.012050 0.88 CTNND1 2390 576859 A RECESSIVE 0.018240 0.75 CTNND1 2391 2956981 A DOMINANT 0.045557 1.16 DLG2 2398 10501540 G RECESSIVE 0.047974 0.83 DLG2 2399 11233641 G RECESSIVE 0.038672 0.81 DLG2 2400 7116939 C RECESSIVE 0.049426 0.80 DLG2 2405 635823 G RECESSIVE 0.039970 0.81 DLG2 2420 10898330 C DOMINANT 0.019595 1.20 OPCML 2422 1823365 T DOMINANT 0.000367 0.72 OPCML 2423 2277271 C DOMINANT 0.028391 1.17 OPCML 2428 4554901 T RECESSIVE 0.021988 0.55 OPCML 2429 7945576 T ADDITIVE 0.041086 1.05 WNT5B 2430 10773971 G ADDITIVE 0.013765 1.63 WNT5B 2431 4766401 T RECESSIVE 0.016081 1.41 TSPAN9 2432 1860431 T ADDITIVE 0.044410 1.23 TSPAN9 2433 7969363 T DOMINANT 0.003161 1.23 TMEM16B 2437 10849338 G ADDITIVE 0.049314 0.86 TMEM16B 2438 3782652 G DOMINANT 0.023546 1.20 TMEM16B 2441 11832095 A DOMINANT 0.006913 1.21 TMEM16B 2442 11063875 T DOMINANT 0.008667 1.21 STYK1 2443 10845187 C RECESSIVE 0.027359 1.23 STYK1 2444 6488316 T RECESSIVE 0.048914 1.20 STYK1 2445 2418087 C RECESSIVE 0.038431 1.21 STYK1 2446 2418088 G RECESSIVE 0.045827 1.20 STYK1 2447 7350597 A RECESSIVE 0.044659 1.20 STYK1 2448 10743918 C DOMINANT 0.010106 0.83 LOC729025 2449 7955194 T DOMINANT 0.015742 0.83 LOC729025 2450 10219493 G DOMINANT 0.030417 0.84 LOC729025 2451 3847918 G DOMINANT 0.020876 0.83 LOC729025 2452 7297251 C DOMINANT 0.030287 0.84 LOC729025 2453 7297372 G DOMINANT 0.005504 0.81 LOC729025 2454 10772915 A DOMINANT 0.003516 0.80 LOC729025 2455 1913253 T DOMINANT 0.023973 0.83 LOC729025 2456 1799491 T DOMINANT 0.003693 0.80 LOC729025 2457 3915237 C DOMINANT 0.032814 0.86 PIK3C2G 2458 4491292 T DOMINANT 0.026816 1.17 PIK3C2G 2459 10841014 A ADDITIVE 0.003107 1.16 PIK3C2G 2460 9300118 G ADDITIVE 0.009854 1.17 PIK3C2G 2463 11044130 A ADDITIVE 0.043648 0.81 ITPR2 2465 11048447 T DOMINANT 0.036036 0.86 ITPR2 2466 9442 T DOMINANT 0.011697 0.83 ITPR2 2467 2570 C DOMINANT 0.014971 0.84 ITPR2 2469 11048588 G ADDITIVE 0.002640 0.91 ITPR2 2470 2230377 T ADDITIVE 0.003187 0.89 ITPR2 2471 6487566 A DOMINANT 0.013025 0.84 LRP1 2472 7975818 C RECESSIVE 0.014070 0.75 LRP1 2473 1800176 T RECESSIVE 0.019701 0.76 LRP1 2474 1800168 C RECESSIVE 0.019762 0.76 LRP1 2475 7301155 G RECESSIVE 0.019893 0.77 CNOT2 2477 7974636 T DOMINANT 0.016534 0.84 KCNC2 2478 4309217 A RECESSIVE 0.014095 0.75 KCNC2 2479 4131954 T RECESSIVE 0.012375 0.74 CHST11 2487 11112146 T ADDITIVE 0.037414 1.10 CHST11 2488 2453161 G DOMINANT 0.005432 0.82 CHST11 2489 2468110 A DOMINANT 0.004451 0.82 CHST11 2490 2642109 T DOMINANT 0.010529 0.83 CHST11 2491 1565815 T DOMINANT 0.034071 0.86 CHST11 2492 1038968 C DOMINANT 0.025751 0.85 CHST11 2493 2696006 T DOMINANT 0.021717 0.85 CHST11 2494 2463017 C DOMINANT 0.022342 0.85 CHST11 2495 2468082 G DOMINANT 0.021225 0.85 CHST11 2496 2468083 A DOMINANT 0.015754 0.84 KIAA1853 2497 7134748 G RECESSIVE 0.047235 1.28 RIMBP2 2504 7132917 A ADDITIVE 0.040625 0.73 RIMBP2 2505 1982939 T ADDITIVE 0.039930 0.80 MTIF3 2515 7334690 A ADDITIVE 0.031553 0.89 N4BP2L2 2518 1081796 A RECESSIVE 0.030849 1.48 NBEA 2524 9600580 A RECESSIVE 0.035462 1.81 KPNA3 2533 7997798 A ADDITIVE 0.045890 0.84 KPNA3 2534 4942864 G ADDITIVE 0.039912 0.84 KPNA3 2535 9535347 G ADDITIVE 0.023264 0.86 PCDH17 2537 4564470 G ADDITIVE 0.003916 1.24 SLAIN1 2553 1146920 C DOMINANT 0.016112 1.19 NALCN 2590 7321815 A RECESSIVE 0.000016 1.56 NALCN 2591 3751403 T RECESSIVE 0.000016 1.61 NALCN 2592 12430088 T RECESSIVE 0.000020 1.59 NALCN 2593 638732 C RECESSIVE 0.000202 1.48 NALCN 2594 2274085 T RECESSIVE 0.002256 1.30 NALCN 2595 7334863 C RECESSIVE 0.000134 1.44 NALCN 2596 1289556 G ADDITIVE 0.010143 0.89 NALCN 2597 9554752 T RECESSIVE 0.000046 1.51 NALCN 2598 633321 G ADDITIVE 0.024253 0.91 NALCN 2599 2044118 A RECESSIVE 0.000020 1.58 NALCN 2600 7986657 G RECESSIVE 0.000381 1.50 ITGBL1 2603 1335589 T RECESSIVE 0.018609 1.37 ITGBL1 2604 875117 G RECESSIVE 0.023042 1.36 ITGBL1 2605 875116 C RECESSIVE 0.021721 1.36 ITGBL1 2606 3783222 G RECESSIVE 0.006719 1.33 ITGBL1 2608 17686597 C DOMINANT 0.027308 1.20 ITGBL1 2609 2281991 G DOMINANT 0.020401 1.21 ITGBL1 2610 1469855 G DOMINANT 0.021955 1.20 ITGBL1 2611 1469853 G DOMINANT 0.028859 1.19 TTC5 2615 10139180 A ADDITIVE 0.013975 0.90 WDR23 2627 6573565 A RECESSIVE 0.015197 1.32 NOVA1 2628 6574950 C RECESSIVE 0.044675 >5 NOVA1 2629 178165 C RECESSIVE 0.037814 1.28 SLC25A21 2631 17105036 T DOMINANT 0.001136 0.63 SLC25A21 2632 712342 C ADDITIVE 0.020794 0.88 SLC25A21 2635 1950367 C ADDITIVE 0.014648 0.61 GNG2 2636 7158738 C RECESSIVE 0.039010 0.84 GNG2 2637 4278650 C ADDITIVE 0.025528 1.18 GNG2 2638 7148347 G ADDITIVE 0.025573 1.16 GNG2 2639 12878420 T RECESSIVE 0.038410 0.83 GNG2 2640 10131301 T RECESSIVE 0.015036 0.80 GNG2 2641 1959518 C DOMINANT 0.030573 1.18 GNG2 2642 1959517 A DOMINANT 0.031171 1.18 GNG2 2647 10873056 C ADDITIVE 0.025723 1.43 SAMD4A 2648 4901520 A DOMINANT 0.006420 1.25 SAMD4A 2649 6572964 A RECESSIVE 0.004562 0.60 SAMD4A 2650 3813402 A DOMINANT 0.012538 1.20 DAAM1 2654 1272858 G ADDITIVE 0.012202 0.91 DAAM1 2655 2295850 C ADDITIVE 0.031869 0.91 GPR135 2656 1253165 A ADDITIVE 0.048407 0.91 GPR135 2657 11628147 A ADDITIVE 0.006366 0.90 GPR135 2658 1271183 T ADDITIVE 0.007668 0.90 GPR135 2659 1253170 T RECESSIVE 0.039459 0.80 GPR135 2660 10136708 G ADDITIVE 0.018228 0.89 PPP2R5E 2661 6573507 C RECESSIVE 0.036369 0.74 PPP2R5E 2662 6573508 C RECESSIVE 0.037725 0.74 PPP2R5E 2663 6573522 A DOMINANT 0.017188 1.18 PPP2R5E 2664 2754223 G DOMINANT 0.014128 1.19 PPP2R5E 2665 10129182 T ADDITIVE 0.003108 1.21 PPP2R5E 2666 964954 G DOMINANT 0.011911 1.19 PPP2R5E 2667 1255771 G DOMINANT 0.004338 1.23 PPP2R5E 2668 8021183 G ADDITIVE 0.002841 1.21 PPP2R5E 2669 1255741 A DOMINANT 0.024639 1.17 RGS6 2685 2526896 C RECESSIVE 0.023660 0.82 KCNK10 2686 12587003 C RECESSIVE 0.002115 1.45 KCNK10 2687 11627082 A RECESSIVE 0.000848 1.72 RPS6KA5 2698 1286146 G DOMINANT 0.005154 1.22 CCDC88C 2700 1970912 T ADDITIVE 0.012282 1.17 CCDC88C 2708 2295882 C ADDITIVE 0.035938 0.81 ATXN3 2710 8008215 G ADDITIVE 0.016375 0.83 RYR3 2718 2596229 A DOMINANT 0.022549 0.83 RYR3 2719 1560968 G DOMINANT 0.016056 0.83 RYR3 2720 2676085 A DOMINANT 0.006326 0.82 RYR3 2721 2676087 A DOMINANT 0.021488 0.83 RYR3 2722 2164249 C RECESSIVE 0.030824 0.83 RYR3 2723 2596159 T DOMINANT 0.018069 0.83 RYR3 2724 2596163 G DOMINANT 0.029746 0.85 RYR3 2725 2572189 T RECESSIVE 0.006751 0.79 RYR3 2726 2082753 A RECESSIVE 0.003879 0.77 RYR3 2727 2572175 A RECESSIVE 0.003637 0.78 RYR3 2728 2572169 A RECESSIVE 0.000866 0.74 RYR3 2729 2596175 A RECESSIVE 0.005002 0.78 RYR3 2730 744776 C ADDITIVE 0.029493 0.70 RYR3 2732 1390159 T RECESSIVE 0.027798 >5 RYR3 2734 7163140 T DOMINANT 0.002105 1.26 C15ORF41 2736 1901721 C DOMINANT 0.004128 0.75 C15ORF41 2737 10518905 C DOMINANT 0.004549 0.76 C15ORF41 2738 8033760 A DOMINANT 0.003999 0.75 C15ORF41 2739 16964046 T DOMINANT 0.014211 0.78 C15ORF41 2740 16964049 A DOMINANT 0.005453 0.76 C15ORF41 2741 16964052 G DOMINANT 0.006294 0.76 MEIS2 2742 16964229 C DOMINANT 0.020710 0.82 MEIS2 2743 12900044 T ADDITIVE 0.013848 1.12 MEIS2 2744 11638361 C ADDITIVE 0.021406 1.11 MEIS2 2745 12438771 T RECESSIVE 0.007917 1.24 KIAA1370 2747 1693523 C RECESSIVE 0.021736 1.44 KIAA1370 2748 11853179 T RECESSIVE 0.008002 1.81 UNC13C 2750 2115825 A RECESSIVE 0.045016 1.19 UNC13C 2754 11636356 T DOMINANT 0.043811 1.17 UNC13C 2755 934192 A DOMINANT 0.012088 1.22 UNC13C 2756 1897069 G RECESSIVE 0.001261 0.76 UNC13C 2757 12439401 T RECESSIVE 0.001191 0.76 UNC13C 2758 12900128 C ADDITIVE 0.001591 1.25 UNC13C 2759 4517736 T RECESSIVE 0.022153 1.25 UNC13C 2760 12908083 T RECESSIVE 0.030215 1.23 UNC13C 2761 7172577 A RECESSIVE 0.023330 1.25 UNC13C 2762 4776220 T RECESSIVE 0.026425 1.24 UNC13C 2763 4776222 C RECESSIVE 0.019881 1.24 UNC13C 2764 573320 A RECESSIVE 0.019152 1.48 UNC13C 2765 8040774 T RECESSIVE 0.031914 1.22 UNC13C 2766 12592914 T DOMINANT 0.042845 0.87 NEDD4 2768 10518828 A RECESSIVE 0.005630 0.35 CGNL1 2769 1039979 T ADDITIVE 0.048156 1.07 CGNL1 2770 1706376 C ADDITIVE 0.048780 1.07 GRINL1A 2775 16977629 T ADDITIVE 0.023972 0.79 ADAM10 2777 1427282 T ADDITIVE 0.026787 1.05 ADAM10 2778 972801 C ADDITIVE 0.032827 1.08 ADAM10 2780 514049 A RECESSIVE 0.029312 1.23 TBC1D2B 2782 4591100 C DOMINANT 0.020383 1.18 TBC1D2B 2783 16969397 T RECESSIVE 0.012908 0.18 ARNT2 2785 4238521 A RECESSIVE 0.000302 0.38 ARNT2 2788 11072927 T ADDITIVE 0.044369 0.97 AKAP13 2796 7180923 A RECESSIVE 0.039654 0.83 AKAP13 2797 2880765 A RECESSIVE 0.032081 0.83 AKAP13 2798 4842888 T RECESSIVE 0.031967 0.83 AKAP13 2799 3743321 A RECESSIVE 0.026612 0.82 AKAP13 2800 8026938 T RECESSIVE 0.022401 0.82 AKAP13 2801 6496055 A RECESSIVE 0.020444 0.82 AKAP13 2802 11632326 A RECESSIVE 0.007324 0.79 AKAP13 2804 10520594 A RECESSIVE 0.014430 1.52 AKAP13 2805 17571078 G RECESSIVE 0.031478 1.45 AKAP13 2807 11631015 G DOMINANT 0.025944 0.85 AKAP13 2810 12909648 A RECESSIVE 0.029193 1.20 AKAP13 2811 7181796 C RECESSIVE 0.018794 1.49 AKAP13 2813 338535 A ADDITIVE 0.021891 0.80 SLCO3A1 2818 207970 T RECESSIVE 0.019343 0.72 SLCO3A1 2820 960440 G DOMINANT 0.045442 1.16 ST8SIA2 2821 2035645 A RECESSIVE 0.006841 1.28 RGMA 2822 12438714 T RECESSIVE 0.011283 4.32 A2BP1 2826 7201725 G DOMINANT 0.017247 1.27 A2BP1 2827 12443531 A DOMINANT 0.018749 1.28 A2BP1 2831 4274456 T RECESSIVE 0.045300 0.80 A2BP1 2836 7197039 C ADDITIVE 0.009536 1.36 N4BP1 2839 9933187 T ADDITIVE 0.049264 1.13 N4BP1 2840 9937623 T ADDITIVE 0.047294 1.12 GOT2 2841 6993 T RECESSIVE 0.011580 1.33 GOT2 2842 30842 T RECESSIVE 0.022879 1.33 GOT2 2844 257637 T ADDITIVE 0.036785 1.11 GOT2 2847 185397 T ADDITIVE 0.049385 1.12 GOT2 2848 11076262 G RECESSIVE 0.036619 1.26 GOT2 2849 6499976 A RECESSIVE 0.026537 1.32 GOT2 2850 1595181 A RECESSIVE 0.047739 1.24 GOT2 2851 10852565 C RECESSIVE 0.019138 1.34 GOT2 2852 4784986 T RECESSIVE 0.015787 1.37 WWOX 2857 7184271 C RECESSIVE 0.030927 0.83 MPHOSPH6 2864 2967370 A DOMINANT 0.020494 1.18 MPHOSPH6 2865 1862820 C DOMINANT 0.043415 1.15 MPHOSPH6 2866 2911391 G DOMINANT 0.036535 1.16 CDH13 2869 11149556 G RECESSIVE 0.013336 0.79 CDH13 2870 9940179 A DOMINANT 0.005530 0.81 CDH13 2871 6563892 A DOMINANT 0.001664 0.80 CDH13 2872 10514579 C DOMINANT 0.002875 0.81 CDH13 2873 444881 G RECESSIVE 0.022470 1.26 CDH13 2874 4782841 G RECESSIVE 0.032078 1.50 KIAA0182 2879 1053328 A DOMINANT 0.029274 0.85 DNAH9 2881 9904592 A DOMINANT 0.004777 1.27 DNAH9 2883 1990236 A ADDITIVE 0.030533 0.84 RAB11FIP4 2885 770520 T ADDITIVE 0.041981 0.97 CA10 2888 952258 C DOMINANT 0.003866 1.23 CA10 2889 349947 A DOMINANT 0.009860 1.20 CA10 2890 349914 G DOMINANT 0.009759 1.20 CA10 2891 6504780 T DOMINANT 0.024457 1.17 CA10 2892 9916020 G RECESSIVE 0.016853 1.28 SDK2 2895 9909121 A DOMINANT 0.034090 0.85 SDK2 2896 7219778 A DOMINANT 0.032294 0.85 DLGAP1 2902 1791375 A ADDITIVE 0.021983 0.84 DLGAP1 2903 11876399 C ADDITIVE 0.042241 0.83 ZFP161 2904 9948693 T ADDITIVE 0.034816 1.11 ZFP161 2905 1539935 C DOMINANT 0.023740 0.84 ZFP161 2906 2155686 G DOMINANT 0.040997 0.85 ZFP161 2907 990072 T ADDITIVE 0.037763 0.87 ZFP161 2908 9957892 C RECESSIVE 0.016403 1.26 ZFP161 2909 11665417 T RECESSIVE 0.017340 1.25 ZFP161 2910 9945680 A RECESSIVE 0.014368 1.26 PTPRM 2912 11081352 T DOMINANT 0.021126 1.18 PTPRM 2913 2156236 T DOMINANT 0.008387 1.21 PTPRM 2914 5000485 T DOMINANT 0.009215 1.20 PTPRM 2915 1942958 T DOMINANT 0.011456 1.20 PTPRM 2916 8088354 A DOMINANT 0.009717 1.21 PTPRM 2917 649598 T DOMINANT 0.016659 1.19 PTPRM 2918 623258 T DOMINANT 0.048530 1.15 PTPRM 2919 2230601 C DOMINANT 0.041904 1.17 PTPRM 2920 619379 C DOMINANT 0.021461 1.18 PTPRM 2921 502843 T DOMINANT 0.011208 1.20 PTPRM 2922 552448 T DOMINANT 0.020617 1.18 PTPRM 2923 507445 T DOMINANT 0.047780 1.15 KIAA0802 2924 1000080 C ADDITIVE 0.034821 0.93 KIAA0802 2925 11877395 T ADDITIVE 0.026018 0.91 KIAA0802 2926 10502383 A ADDITIVE 0.024860 0.90 KIAA0802 2927 17407982 C ADDITIVE 0.023943 0.91 KIAA0802 2928 17408213 A ADDITIVE 0.023207 0.90 OSBPL1A 2930 9945595 C DOMINANT 0.002700 0.70 OSBPL1A 2931 275857 C DOMINANT 0.004533 0.71 FUSSEL18 2939 1434507 T RECESSIVE 0.003435 0.66 FUSSEL18 2940 1434514 C RECESSIVE 0.009662 0.74 FUSSEL18 2941 11877471 G RECESSIVE 0.011304 0.75 KIAA0427 2943 169936 A ADDITIVE 0.041137 0.86 KIAA0427 2944 1384227 C ADDITIVE 0.001146 0.84 KIAA0427 2945 1384226 A DOMINANT 0.005707 0.82 KIAA0427 2946 16949850 G ADDITIVE 0.000385 0.83 KIAA0427 2947 9947954 C ADDITIVE 0.012909 0.86 KIAA0427 2948 877885 A ADDITIVE 0.000926 0.83 DCC 2960 7233997 A DOMINANT 0.014859 0.83 DCC 2961 9957443 G DOMINANT 0.020159 0.84 DCC 2963 2879526 G DOMINANT 0.021401 0.85 DOK6 2983 9947842 C RECESSIVE 0.022893 1.72 DOK6 2984 2364201 T ADDITIVE 0.020490 1.15 DOK6 2985 10871643 G ADDITIVE 0.012735 1.15 DOK6 2986 9964498 T ADDITIVE 0.049292 1.05 DOK6 2987 12966827 C ADDITIVE 0.027862 1.20 DOK6 2988 1550597 C ADDITIVE 0.041182 1.18 DOK6 2989 1550598 A ADDITIVE 0.042207 1.22 DOK6 2990 1992488 C ADDITIVE 0.037761 1.20 DOK6 2992 12967804 T RECESSIVE 0.039890 1.20 DOK6 2993 12968689 A RECESSIVE 0.039259 1.20 DOK6 2994 9965360 A DOMINANT 0.028614 0.85 MBP 2996 12967023 A ADDITIVE 0.035505 1.20 MBP 2997 17576996 C ADDITIVE 0.031055 1.21 MBP 2998 7232502 T DOMINANT 0.009987 1.21 MBP 2999 8085877 G RECESSIVE 0.033747 1.27 MBP 3000 1868655 C ADDITIVE 0.035758 1.09 ZNF667 3003 7251105 G DOMINANT 0.038115 0.86 RNF24 3008 2143235 A ADDITIVE 0.007496 1.24 FERMT1 3015 16991765 A RECESSIVE 0.001650 3.26 FERMT1 3016 11700199 A RECESSIVE 0.001192 4.88 FERMT1 3017 11700084 C RECESSIVE 0.010871 1.88 FERMT1 3018 6516104 T RECESSIVE 0.001978 4.07 FERMT1 3019 7268391 C RECESSIVE 0.002881 3.91 PLCB1 3020 6118083 G RECESSIVE 0.039048 0.68 PLCB1 3026 1237829 A DOMINANT 0.028785 0.86 PLCB1 3027 1237071 A DOMINANT 0.024043 0.85 PLCB4 3033 6086900 T RECESSIVE 0.024142 0.20 PLCB4 3034 6077549 T RECESSIVE 0.011337 0.65 PLCB4 3035 6077552 G RECESSIVE 0.043659 0.32 MACROD2 3039 6079391 T RECESSIVE 0.011533 1.26 MACROD2 3041 2208135 G RECESSIVE 0.024086 0.82 MACROD2 3043 6074905 A RECESSIVE 0.030731 0.82 MACROD2 3046 6034296 G RECESSIVE 0.033971 1.56 MACROD2 3047 175810 G RECESSIVE 0.029735 1.59 MACROD2 3048 175805 T RECESSIVE 0.039405 1.53 MACROD2 3049 6080100 C DOMINANT 0.010450 1.20 KIF16B 3051 6044021 T DOMINANT 0.005183 0.81 PTPRT 3058 2223540 T DOMINANT 0.042570 0.87 KCNB1 3059 6095546 A DOMINANT 0.017233 1.18 PTGIS 3060 4647 T DOMINANT 0.021768 1.18 PTGIS 3061 5629 A DOMINANT 0.015779 1.19 PTGIS 3062 6019876 C DOMINANT 0.031979 1.16 PTGIS 3063 495146 T ADDITIVE 0.044751 1.16 BMP7 3065 6070015 A RECESSIVE 0.024126 0.20 BMP7 3066 162313 A DOMINANT 0.016012 0.82 BMP7 3067 2180782 C DOMINANT 0.001178 0.78 BMP7 3068 1015985 A DOMINANT 0.013295 0.81 BMP7 3069 6127980 A DOMINANT 0.036373 0.84 BMP7 3070 6127985 A DOMINANT 0.003333 0.80 GNAS 3072 8386 T DOMINANT 0.019343 0.60 CDH4 3076 6028127 G RECESSIVE 0.019399 0.75 CDH4 3077 6061722 C ADDITIVE 0.002832 1.11 CDH4 3078 6121761 A DOMINANT 0.011894 1.20 CDH4 3079 6121764 G DOMINANT 0.009310 1.21 CDH4 3080 1317385 C DOMINANT 0.006347 1.22 CDH4 3082 2427142 G DOMINANT 0.008281 0.82 CDH4 3083 6089264 G DOMINANT 0.016691 1.19 CDH4 3084 6089476 A ADDITIVE 0.018997 1.23 CDH4 3085 6089479 G DOMINANT 0.016246 1.19 NCAM2 3091 2826349 G DOMINANT 0.031339 0.86 NCAM2 3092 2826351 A DOMINANT 0.025268 0.85 NCAM2 3093 9980583 G RECESSIVE 0.002420 0.54 PCP4 3110 1011037 A ADDITIVE 0.011279 0.79 PCP4 3111 2837283 T ADDITIVE 0.034281 0.82 PCP4 3112 2837286 C ADDITIVE 0.035252 0.82 SLC37A1 3114 228058 A DOMINANT 0.023159 1.19 SLC37A1 3115 228067 A DOMINANT 0.015615 1.21 ARVCF 3120 2239395 G RECESSIVE 0.017496 >5 HPS4 3123 929131 T ADDITIVE 0.046458 0.80 RIBC2 3141 5765425 A DOMINANT 0.029442 0.85

TABLE A Summary of SNPs (NCBI Human Genome Reference Assembly Build 36.3) Seq ID Gene Chr Position (BP) Seq ID Gene Chr Position (BP) 1 KIF1B 1 10,323,189 2 PRDM2 1 13,817,155 3 RP1-21O18.1 1 15,149,071 4 RP1-21O18.1 1 15,160,805 5 RP1-21O18.1 1 15,278,076 6 RP1-21O18.1 1 15,281,743 7 RP1-21O18.1 1 15,284,856 8 RP1-21O18.1 1 15,287,000 9 EPHB2 1 23,091,301 10 EPHB2 1 23,092,613 11 CLIC4 1 24,939,035 12 CLIC4 1 25,040,711 13 AGBL4-C1ORF165 1 49,010,181 14 AGBL4-C1ORF165 1 49,013,544 15 AGBL4-C1ORF165 1 49,021,571 16 AGBL4-C1ORF165 1 49,025,043 17 AGBL4-C1ORF165 1 49,046,634 18 AGBL4-C1ORF165 1 49,109,043 19 AGBL4-C1ORF165 1 49,214,610 20 AGBL4-C1ORF165 1 49,219,672 21 AGBL4-C1ORF165 1 49,223,291 22 AGBL4-C1ORF165 1 49,236,388 23 AGBL4-C1ORF165 1 49,239,649 24 AGBL4-C1ORF165 1 49,240,612 25 AGBL4-C1ORF165 1 49,243,353 26 AGBL4-C1ORF165 1 49,255,290 27 AGBL4-C1ORF165 1 49,278,082 28 LRP8 1 53,480,541 29 LRP8 1 53,484,323 30 LRP8 1 53,486,137 31 LRP8 1 53,495,778 32 LRP8 1 53,495,937 33 LRP8 1 53,504,903 34 LRP8 1 53,519,183 35 LRP8 1 53,524,198 36 LRP8 1 53,581,281 37 LRP8 1 53,584,530 38 LRP8 1 53,584,799 39 PRKACB 1 84,421,173 40 SLC6A17 1 110,525,368 41 SLC6A17 1 110,533,656 42 SLC16A4 1 110,706,448 43 SLC16A4 1 110,711,920 44 SLC16A4 1 110,723,238 45 KCNA10 1 110,862,534 46 SYT6 1 114,452,599 47 NGF 1 115,662,788 48 NGF 1 115,668,794 49 NGF 1 115,674,570 50 NGF 1 115,677,168 51 NGF 1 115,679,147 52 SLC22A15 1 116,328,295 53 SLC22A15 1 116,328,591 54 SLC22A15 1 116,406,946 55 PTGFRN 1 117,277,238 56 PTGFRN 1 117,316,638 57 PTGFRN 1 117,324,524 58 PTGFRN 1 117,333,336 59 CGN 1 149,743,817 60 CGN 1 149,743,936 61 CGN 1 149,763,826 62 CGN 1 149,776,650 63 ATF6 1 160,007,898 64 ATF6 1 160,014,680 65 ATF6 1 160,038,140 66 ATF6 1 160,052,935 67 ATF6 1 160,058,351 68 ATF6 1 160,062,520 69 ATF6 1 160,076,775 70 ATF6 1 160,101,070 71 ATF6 1 160,102,111 72 ATF6 1 160,107,168 73 ATF6 1 160,118,977 74 ATF6 1 160,166,085 75 ATF6 1 160,166,355 76 ATF6 1 160,173,294 77 ATF6 1 160,176,223 78 ATF6 1 160,176,587 79 ATF6 1 160,197,100 80 OLFML2B 1 160,230,231 81 OLFML2B 1 160,230,414 82 OLFML2B 1 160,231,160 83 OLFML2B 1 160,231,641 84 OLFML2B 1 160,233,911 85 FAM78B 1 164,307,179 86 FAM78B 1 164,382,610 87 FAM78B 1 164,385,520 88 FAM78B 1 164,388,390 89 FAM78B 1 164,392,047 90 DPT 1 166,961,651 91 SEC16B 1 176,201,673 92 CACNA1E 1 179,723,323 93 CACNA1E 1 179,726,011 94 CACNA1E 1 179,745,206 95 CACNA1E 1 179,746,806 96 CACNA1E 1 179,845,854 97 CACNA1E 1 179,913,657 98 CACNA1E 1 179,939,026 99 CACNA1E 1 179,941,514 100 CACNA1E 1 179,980,795 101 CACNA1E 1 179,993,896 102 CACNA1E 1 180,019,653 103 LAMC1 1 181,258,040 104 LAMC1 1 181,290,319 105 LAMC1 1 181,295,593 106 LAMC1 1 181,299,851 107 LAMC1 1 181,319,156 108 LAMC1 1 181,342,355 109 LAMC1 1 181,342,401 110 LAMC1 1 181,343,643 111 LAMC1 1 181,344,420 112 LAMC1 1 181,344,519 113 LAMC1 1 181,348,490 114 LAMC1 1 181,352,319 115 LAMC1 1 181,352,378 116 LAMC1 1 181,359,123 117 LAMC1 1 181,359,651 118 LAMC1 1 181,366,003 119 LAMC1 1 181,374,069 120 LAMC1 1 181,375,234 121 PLA2G4A 1 185,146,514 122 KCNH1 1 209,006,965 123 KCNH1 1 209,007,097 124 KCNH1 1 209,024,314 125 KCNH1 1 209,149,546 126 KCNH1 1 209,219,982 127 KCNH1 1 209,229,662 128 KCNH1 1 209,339,441 129 KCNH1 1 209,361,502 130 KCNK2 1 213,245,368 131 KCNK2 1 213,266,926 132 KCNK2 1 213,312,765 133 KCNK2 1 213,428,830 134 KCNK2 1 213,444,580 135 KCNK2 1 213,453,686 136 KCNK2 1 213,456,232 137 KCNK2 1 213,474,680 138 USH2A 1 213,507,653 139 USH2A 1 213,585,997 140 USH2A 1 213,857,628 141 USH2A 1 213,883,311 142 USH2A 1 214,020,229 143 ESRRG 1 214,908,407 144 ESRRG 1 214,962,423 145 SLC35F3 1 232,337,540 146 SLC35F3 1 232,338,040 147 SLC35F3 1 232,344,068 148 SLC35F3 1 232,348,338 149 SLC35F3 1 232,349,217 150 SLC35F3 1 232,515,592 151 GNG4 1 233,794,439 152 GNG4 1 233,869,010 153 GNG4 1 233,869,096 154 RYR2 1 235,313,686 155 RYR2 1 235,400,588 156 RYR2 1 235,593,923 157 RYR2 1 235,793,735 158 RYR2 1 235,795,490 159 CHRM3 1 237,867,474 160 FMN2 1 238,486,712 161 FMN2 1 238,494,888 162 FMN2 1 238,564,221 163 FMN2 1 238,564,870 164 FMN2 1 238,575,081 165 FMN2 1 238,575,190 166 RGS7 1 239,432,765 167 PLD5 1 240,696,081 168 PLD5 1 240,696,530 169 C2ORF46Â 2 8,256,296 170 C2ORF46Â 2 8,262,682 171 C2ORF46Â 2 8,276,150 172 DDEF2 2 9,293,513 173 DDEF2 2 9,309,142 174 DDEF2 2 9,320,439 175 DDEF2 2 9,335,725 176 DDEF2 2 9,347,069 177 DDEF2 2 9,347,151 178 DDEF2 2 9,351,380 179 DDEF2 2 9,352,262 180 DDEF2 2 9,352,592 181 DDEF2 2 9,356,883 182 DDEF2 2 9,358,353 183 DDEF2 2 9,361,294 184 DDEF2 2 9,375,632 185 DDEF2 2 9,375,911 186 DDEF2 2 9,376,857 187 DDEF2 2 9,377,685 188 DDEF2 2 9,383,138 189 DDEF2 2 9,392,788 190 DDEF2 2 9,398,018 191 DDEF2 2 9,431,301 192 KCNF1 2 10,935,452 193 NAG 2 15,335,505 194 NAG 2 15,368,097 195 HS1BP3 2 20,680,974 196 HS1BP3 2 20,681,154 197 HS1BP3 2 20,702,827 198 KLHL29 2 23,469,562 199 KLHL29 2 23,482,236 200 KLHL29 2 23,503,207 201 KLHL29 2 23,504,556 202 KLHL29 2 23,504,709 203 KLHL29 2 23,504,805 204 KLHL29 2 23,512,565 205 KLHL29 2 23,518,985 206 KLHL29 2 23,519,201 207 KLHL29 2 23,529,537 208 KLHL29 2 23,554,108 209 KLHL29 2 23,554,609 210 ASXL2 2 25,823,233 211 ASXL2 2 25,859,983 212 ASXL2 2 25,871,731 213 CIB4 2 26,718,111 214 KCNK3 2 26,806,502 215 DPYSL5 2 26,936,063 216 DPYSL5 2 26,936,993 217 BRE 2 27,955,442 218 BRE 2 28,059,085 219 BRE 2 28,085,591 220 BRE 2 28,094,029 221 BRE 2 28,121,971 222 BRE 2 28,377,338 223 CRIM1 2 36,532,532 224 CRIM1 2 36,535,123 225 CRIM1 2 36,545,455 226 CRIM1 2 36,549,124 227 CRIM1 2 36,553,482 228 CRIM1 2 36,554,084 229 CRIM1 2 36,557,648 230 CRIM1 2 36,558,502 231 CRIM1 2 36,581,523 232 CRIM1 2 36,581,946 233 CRIM1 2 36,592,075 234 CRIM1 2 36,594,147 235 CRIM1 2 36,598,516 236 CRIM1 2 36,610,853 237 CRIM1 2 36,611,604 238 FEZ2 2 36,632,391 239 FEZ2 2 36,634,053 240 FEZ2 2 36,634,284 241 FEZ2 2 36,634,524 242 FEZ2 2 36,634,642 243 FEZ2 2 36,634,905 244 FEZ2 2 36,644,730 245 FEZ2 2 36,645,798 246 FEZ2 2 36,655,361 247 FEZ2 2 36,657,394 248 FEZ2 2 36,663,977 249 FEZ2 2 36,672,274 250 FEZ2 2 36,673,724 251 CDC42EP3 2 37,718,574 252 CDC42EP3 2 37,726,375 253 SLC8A1 2 40,381,169 254 SLC8A1 2 40,406,693 255 SLC8A1 2 40,409,237 256 HAAO 2 42,900,658 257 HAAO 2 42,911,782 258 PLEKHH2 2 43,817,582 259 PLEKHH2 2 43,839,444 260 PLEKHH2 2 43,846,952 261 C2ORF34 2 44,443,570 262 C2ORF34 2 44,446,479 263 C2ORF34 2 44,457,570 264 C2ORF34 2 44,458,445 265 C2ORF34 2 44,474,546 266 C2ORF34 2 44,497,761 267 C2ORF34 2 44,499,415 268 C2ORF34 2 44,500,542 269 C2ORF34 2 44,501,551 270 C2ORF34 2 44,503,622 271 C2ORF34 2 44,503,754 272 C2ORF34 2 44,508,409 273 C2ORF34 2 44,514,120 274 C2ORF34 2 44,516,656 275 C2ORF34 2 44,524,500 276 C2ORF34 2 44,524,913 277 C2ORF34 2 44,525,669 278 C2ORF34 2 44,527,954 279 C2ORF34 2 44,529,327 280 C2ORF34 2 44,529,730 281 C2ORF34 2 44,532,789 282 C2ORF34 2 44,536,723 283 C2ORF34 2 44,538,657 284 C2ORF34 2 44,539,189 285 C2ORF34 2 44,546,928 286 C2ORF34 2 44,556,482 287 C2ORF34 2 44,574,451 288 C2ORF34 2 44,576,627 289 C2ORF34 2 44,584,000 290 C2ORF34 2 44,584,081 291 C2ORF34 2 44,588,327 292 C2ORF34 2 44,588,942 293 C2ORF34 2 44,589,457 294 C2ORF34 2 44,593,376 295 C2ORF34 2 44,599,767 296 C2ORF34 2 44,610,492 297 C2ORF34 2 44,613,163 298 C2ORF34 2 44,621,606 299 C2ORF34 2 44,631,967 300 C2ORF34 2 44,635,233 301 C2ORF34 2 44,643,689 302 C2ORF34 2 44,645,848 303 C2ORF34 2 44,648,280 304 C2ORF34 2 44,815,520 305 C2ORF34 2 44,834,212 306 C2ORF34 2 44,846,991 307 PRKCE 2 45,955,890 308 PRKCE 2 45,979,919 309 PRKCE 2 46,065,162 310 PRKCE 2 46,141,058 311 EPAS1 2 46,449,937 312 EPAS1 2 46,451,331 313 EPAS1 2 46,462,046 314 PSME4 2 53,987,248 315 ACYP2 2 54,216,479 316 CCDC85A 2 56,457,489 317 COMMD1 2 62,054,981 318 COMMD1 2 62,127,627 319 COMMD1 2 62,193,184 320 COMMD1 2 62,221,224 321 AAK1 2 69,569,349 322 AAK1 2 69,630,234 323 AAK1 2 69,635,501 324 AAK1 2 69,637,782 325 AAK1 2 69,685,140 326 AAK1 2 69,832,899 327 CTNNA2 2 79,635,253 328 CTNNA2 2 79,726,512 329 CTNNA2 2 79,826,944 330 CTNNA2 2 80,167,469 331 CTNNA2 2 80,218,704 332 CTNNA2 2 80,251,439 333 CTNNA2 2 80,252,218 334 CTNNA2 2 80,266,636 335 CTNNA2 2 80,266,949 336 CTNNA2 2 80,274,207 337 CTNNA2 2 80,274,788 338 CTNNA2 2 80,287,912 339 CTNNA2 2 80,288,147 340 CTNNA2 2 80,299,023 341 CTNNA2 2 80,304,589 342 CTNNA2 2 80,304,695 343 CTNNA2 2 80,305,615 344 CTNNA2 2 80,313,674 345 INPP4A 2 98,530,592 346 NAP5 2 133,502,847 347 NAP5 2 133,546,849 348 NAP5 2 133,547,260 349 NAP5 2 133,589,500 350 NAP5 2 134,042,993 351 RAB3GAP1 2 135,513,693 352 RAB3GAP1 2 135,520,236 353 RAB3GAP1 2 135,535,377 354 RAB3GAP1 2 135,607,078 355 RAB3GAP1 2 135,624,316 356 ZRANB3 2 135,867,882 357 LRP1B 2 140,711,565 358 LRP1B 2 140,749,675 359 LRP1B 2 141,253,166 360 LRP1B 2 141,287,799 361 LRP1B 2 141,480,634 362 LRP1B 2 141,495,066 363 LRP1B 2 141,495,534 364 LRP1B 2 142,281,762 365 LRP1B 2 142,298,733 366 LRP1B 2 142,358,098 367 LRP1B 2 142,360,248 368 LRP1B 2 142,363,092 369 LRP1B 2 142,363,404 370 LRP1B 2 142,371,205 371 LRP1B 2 142,518,411 372 LRP1B 2 142,529,079 373 LRP1B 2 142,529,190 374 LRP1B 2 142,530,425 375 LRP1B 2 142,537,344 376 LRP1B 2 142,544,454 377 LRP1B 2 142,568,099 378 LRP1B 2 142,572,993 379 LRP1B 2 142,590,723 380 LRP1B 2 142,591,415 381 LRP1B 2 142,592,521 382 KYNU 2 143,365,273 383 KYNU 2 143,436,812 384 KYNU 2 143,474,395 385 ARHGAP15 2 143,773,914 386 ARHGAP15 2 143,999,263 387 ARHGAP15 2 144,018,166 388 ARHGAP15 2 144,025,496 389 ARHGAP15 2 144,034,639 390 ARHGAP15 2 144,059,774 391 ARHGAP15 2 144,264,615 392 ARHGAP15 2 144,283,468 393 ARHGAP15 2 144,294,622 394 CACNB4 2 152,552,320 395 FMNL2 2 153,113,840 396 FMNL2 2 153,122,655 397 FMNL2 2 153,123,190 398 FMNL2 2 153,153,555 399 KCNJ3 2 155,340,539 400 PKP4 2 159,101,556 401 PKP4 2 159,208,949 402 PLA2R1 2 160,516,560 403 PLA2R1 2 160,543,237 404 PLA2R1 2 160,594,118 405 PLA2R1 2 160,598,673 406 PLA2R1 2 160,599,255 407 PLA2R1 2 160,599,934 408 KCNH7 2 163,243,409 409 KCNH7 2 163,253,109 410 KCNH7 2 163,256,031 411 SCN3A 2 165,694,177 412 SCN2A 2 165,846,854 413 SCN2A 2 165,927,516 414 SCN2A 2 165,927,991 415 SCN2A 2 165,948,264 416 SCN1A 2 166,626,965 417 SCN1A 2 166,628,663 418 SCN1A 2 166,629,033 419 SCN1A 2 166,632,718 420 SCN1A 2 166,633,217 421 SCN1A 2 166,633,417 422 SCN9A 2 166,764,674 423 SCN9A 2 166,814,951 424 SCN9A 2 166,844,835 425 SCN9A 2 166,853,220 426 SCN7A 2 166,970,242 427 SCN7A 2 166,991,078 428 SCN7A 2 167,027,829 429 SCN7A 2 167,034,898 430 SCN7A 2 167,056,881 431 SCN7A 2 167,057,716 432 CERKL 2 182,228,354 433 PDE1A 2 182,874,241 434 PDE1A 2 182,910,657 435 PDE1A 2 182,918,516 436 PDE1A 2 182,919,054 437 PDE1A 2 182,919,225 438 PDE1A 2 182,932,372 439 PDE1A 2 182,970,373 440 PDE1A 2 182,971,998 441 NAB1 2 191,177,207 442 TMEFF2 2 192,701,461 443 TMEFF2 2 192,712,421 444 TMEFF2 2 192,715,868 445 TMEFF2 2 192,740,989 446 TMEFF2 2 192,743,968 447 ALS2Â 2 202,269,099 448 ABI2 2 203,952,004 449 ABI2 2 203,985,853 450 PARD3B 2 205,237,235 451 PARD3B 2 205,244,163 452 PARD3B 2 205,538,236 453 PARD3B 2 206,182,257 454 PARD3B 2 206,188,103 455 NRP2 2 206,300,940 456 NRP2 2 206,301,486 457 NRP2 2 206,318,296 458 PIP5K3 2 208,843,584 459 ERBB4 2 211,945,133 460 ERBB4 2 213,507,240 461 ERBB4 2 213,507,896 462 IRS1 2 227,304,756 463 IRS1 2 227,307,777 464 IRS1 2 227,310,525 465 IRS1 2 227,322,249 466 IRS1 2 227,322,481 467 IRS1 2 227,385,837 468 IRS1 2 227,388,355 469 COL4A4 2 227,575,963 470 COL4A4 2 227,581,239 471 COL4A4 2 227,583,201 472 COL4A4 2 227,583,604 473 COL4A4 2 227,591,892 474 COL4A4 2 227,597,803 475 COL4A4 2 227,600,105 476 COL4A4 2 227,601,261 477 COL4A4 2 227,604,676 478 COL4A4 2 227,604,896 479 COL4A4 2 227,606,678 480 COL4A4 2 227,608,663 481 COL4A4 2 227,613,183 482 COL4A4 2 227,664,311 483 COL4A3 2 227,857,351 484 COL4A3 2 227,864,201 485 COL4A3 2 227,864,848 486 COL4A3 2 227,885,723 487 COL4A3 2 227,886,069 488 DNER 2 229,964,830 489 DNER 2 229,972,935 490 DNER 2 230,109,326 491 DNER 2 230,110,447 492 DNER 2 230,145,109 493 ECEL1 2 233,017,310 494 CHRND 2 233,088,264 495 SAG 2 233,912,247 496 SAG 2 233,912,366 497 SAG 2 233,912,663 498 CENTG2 2 236,372,905 499 CENTG2 2 236,487,308 500 CENTG2 2 236,601,492 501 CNTN6 3 1,206,334 502 CNTN6 3 1,222,859 503 CNTN6 3 1,372,069 504 CNTN6 3 1,372,414 505 CNTN6 3 1,396,673 506 CNTN6 3 1,396,885 507 CNTN6 3 1,396,900 508 CNTN6 3 1,399,718 509 CNTN6 3 1,399,850 510 CNTN6 3 1,400,168 511 CNTN6 3 1,400,506 512 CNTN6 3 1,417,951 513 CNTN4 3 2,461,763 514 CNTN4 3 2,462,786 515 CNTN4 3 2,584,580 516 CNTN4 3 2,588,001 517 CNTN4 3 2,729,042 518 CNTN4 3 2,733,163 519 CNTN4 3 2,734,283 520 CNTN4 3 2,751,927 521 CNTN4 3 3,044,773 522 CNTN4 3 3,068,277 523 CNTN4 3 3,071,927 524 CNTN4 3 3,073,041 525 ITPR1 3 4,527,968 526 ITPR1 3 4,536,649 527 ITPR1 3 4,646,029 528 ITPR1 3 4,646,393 529 ITPR1 3 4,651,285 530 ITPR1 3 4,688,093 531 IRAK2 3 10,216,875 532 IRAK2 3 10,247,181 533 IRAK2 3 10,251,163 534 ATP2B2 3 10,388,601 535 SLC6A11 3 10,844,124 536 SLC6A1 3 11,055,169 537 SLC6A6 3 14,503,422 538 GADL1 3 30,846,244 539 FBXL2 3 33,268,762 540 CLASP2 3 33,516,308 541 CLASP2 3 33,516,362 542 CLASP2 3 33,584,334 543 CLASP2 3 33,628,626 544 CLASP2 3 33,712,097 545 CLASP2 3 33,726,022 546 ARPP-21 3 35,699,600 547 ARPP-21 3 35,754,086 548 ARPP-21 3 35,754,754 549 ARPP-21 3 35,756,766 550 ARPP-21 3 35,760,300 551 ARPP-21 3 35,760,612 552 STAC 3 36,407,617 553 ULK4 3 41,276,512 554 ULK4 3 41,276,538 555 ULK4 3 41,278,091 556 ULK4 3 41,280,179 557 ULK4 3 41,347,094 558 ULK4 3 41,353,625 559 ULK4 3 41,395,796 560 ULK4 3 41,430,367 561 ZNF445 3 44,472,605 562 GPX1 3 49,853,082 563 GPX1 3 49,865,617 564 CAMKV 3 49,877,164 565 SEMA3F 3 50,171,422 566 SEMA3F 3 50,200,033 567 CACNA2D2 3 50,404,286 568 CACNA2D2 3 50,406,198 569 CACNA2D2 3 50,406,414 570 CACNA2D2 3 50,424,066 571 CACNA2D2 3 50,432,231 572 CACNA2D2 3 50,436,244 573 CACNA2D2 3 50,451,382 574 CACNA2D2 3 50,458,441 575 CACNA2D2 3 50,496,406 576 CACNA2D2 3 50,499,225 577 CACNA2D2 3 50,499,562 578 CACNA2D2 3 50,500,021 579 CACNA2D2 3 50,523,899 580 CACNA2D3 3 54,123,584 581 CACNA2D3 3 54,986,416 582 CACNA2D3 3 54,986,679 583 CACNA2D3 3 54,996,262 584 CACNA2D3 3 55,011,390 585 CACNA2D3 3 55,019,916 586 ERC2 3 55,776,128 587 ERC2 3 55,924,525 588 FLNB 3 58,083,555 589 FLNB 3 58,144,512 590 FHIT 3 59,814,275 591 FHIT 3 59,921,424 592 FHIT 3 59,928,545 593 FHIT 3 59,941,593 594 FHIT 3 59,956,110 595 FHIT 3 59,957,080 596 FHIT 3 59,966,929 597 FHIT 3 59,968,262 598 FHIT 3 60,123,563 599 FHIT 3 60,334,358 600 FHIT 3 60,350,356 601 FHIT 3 60,755,919 602 FHIT 3 60,769,257 603 PTPRG 3 62,219,610 604 CADPS 3 62,747,546 605 CADPS 3 62,780,447 606 CADPS 3 62,828,479 607 CADPS 3 62,838,021 608 CADPS 3 62,838,356 609 CADPS 3 62,846,542 610 CADPS 3 62,851,173 611 SYNPR 3 63,450,516 612 SYNPR 3 63,451,187 613 SYNPR 3 63,505,317 614 PRICKLE2 3 64,159,383 615 PRICKLE2 3 64,159,437 616 PRICKLE2 3 64,184,717 617 PRICKLE2 3 64,186,645 618 MAGI1 3 65,576,514 619 MAGI1 3 65,821,824 620 MAGI1 3 65,836,434 621 MAGI1 3 65,839,896 622 FAM19A1 3 68,075,588 623 FAM19A1 3 68,409,920 624 ROBO2 3 77,392,802 625 ROBO2 3 77,405,024 626 ROBO1 3 78,987,206 627 ROBO1 3 78,987,766 628 ROBO1 3 79,258,557 629 ROBO1 3 79,273,280 630 ROBO1 3 79,280,400 631 ROBO1 3 79,615,785 632 GBE1 3 81,677,271 633 EPHA3 3 89,604,354 634 EPHA6 3 98,039,176 635 CBLB 3 106,905,095 636 CBLB 3 106,947,879 637 CBLB 3 106,982,063 638 CBLB 3 107,007,179 639 CBLB 3 107,007,800 640 PLCXD2 3 112,846,428 641 PLCXD2 3 112,878,258 642 PLCXD2 3 112,883,336 643 KALRN 3 125,279,449 644 KALRN 3 125,453,554 645 KALRN 3 125,461,439 646 KALRN 3 125,649,153 647 KALRN 3 125,675,364 648 KALRN 3 125,678,784 649 KALRN 3 125,685,686 650 KALRN 3 125,904,630 651 ZXDC 3 127,661,080 652 ZXDC 3 127,665,610 653 CPNE4 3 132,705,653 654 CPNE4 3 132,886,287 655 CPNE4 3 133,106,102 656 CPNE4 3 133,142,633 657 CPNE4 3 133,145,979 658 EPHB1 3 135,954,344 659 EPHB1 3 136,150,537 660 EPHB1 3 136,150,839 661 EPHB1 3 136,151,449 662 EPHB1 3 136,152,557 663 EPHB1 3 136,153,214 664 EPHB1 3 136,154,213 665 EPHB1 3 136,154,774 666 EPHB1 3 136,154,975 667 EPHB1 3 136,156,084 668 EPHB1 3 136,158,491 669 EPHB1 3 136,166,312 670 EPHB1 3 136,166,631 671 EPHB1 3 136,396,640 672 SPSB4 3 142,238,268 673 SPSB4 3 142,241,400 674 SPSB4 3 142,332,653 675 SERPINI1 3 168,993,166 676 SLC7A14 3 171,664,127 677 SLC7A14 3 171,793,139 678 SLC7A14 3 171,815,650 679 TNIK 3 172,281,618 680 TNIK 3 172,426,406 681 TNIK 3 172,713,965 682 PLD1 3 172,783,931 683 PLD1 3 172,784,300 684 PLD1 3 172,784,760 685 PLD1 3 172,785,096 686 PLD1 3 172,786,345 687 PLD1 3 172,790,287 688 PLD1 3 172,790,551 689 PLD1 3 172,791,538 690 PLD1 3 172,792,846 691 PLD1 3 172,802,921 692 PLD1 3 172,804,008 693 PLD1 3 172,820,931 694 PLD1 3 172,852,470 695 PLD1 3 172,862,868 696 PLD1 3 172,886,817 697 PLD1 3 172,887,172 698 PLD1 3 172,892,297 699 PLD1 3 172,937,882 700 PLD1 3 172,960,647 701 PLD1 3 172,965,677 702 NLGN1 3 175,040,531 703 NLGN1 3 175,046,630 704 NLGN1 3 175,512,036 705 NLGN1 3 175,522,551 706 NLGN1 3 175,541,245 707 HTR3D 3 185,244,358 708 LEPREL1 3 191,232,932 709 LEPREL1 3 191,232,980 710 IL1RAP 3 191,715,994 711 IL1RAP 3 191,716,369 712 IL1RAP 3 191,716,532 713 IL1RAP 3 191,719,452 714 IL1RAP 3 191,721,842 715 IL1RAP 3 191,836,940 716 IL1RAP 3 191,902,235 717 IL1RAP 3 191,914,335 718 CENTB2 3 196,488,549 719 SLC2A9 4 9,525,278 720 SLC2A9 4 9,525,760 721 SLC2A9 4 9,551,057 722 SLC2A9 4 9,596,422 723 SLC2A9 4 9,605,950 724 SLC2A9 4 9,606,822 725 SLC2A9 4 9,611,763 726 LDB2 4 16,086,960 727 LDB2 4 16,088,861 728 LDB2 4 16,104,049 729 LDB2 4 16,197,827 730 LDB2 4 16,207,495 731 LDB2 4 16,390,278 732 LDB2 4 16,399,413 733 LDB2 4 16,410,139 734 LDB2 4 16,417,600 735 KCNIP4 4 20,299,155 736 KCNIP4 4 20,342,368 737 KCNIP4 4 20,364,338 738 KCNIP4 4 20,368,712 739 KCNIP4 4 20,369,781 740 SOD3 4 24,400,244 741 PI4K2B 4 24,837,015 742 KIAA1239 4 37,121,710 743 KIAA1239 4 37,161,668 744 UBE2K 4 39,394,605 745 N4BP2 4 39,736,870 746 LIMCH1 4 41,032,178 747 LIMCH1 4 41,183,247 748 LIMCH1 4 41,212,305 749 LIMCH1 4 41,213,350 750 LIMCH1 4 41,213,408 751 LIMCH1 4 41,215,951 752 LIMCH1 4 41,219,683 753 LIMCH1 4 41,221,260 754 LIMCH1 4 41,221,506 755 LIMCH1 4 41,221,779 756 LIMCH1 4 41,223,320 757 LIMCH1 4 41,226,429 758 LIMCH1 4 41,235,876 759 LIMCH1 4 41,306,332 760 LIMCH1 4 41,308,688 761 LIMCH1 4 41,310,447 762 LIMCH1 4 41,314,999 763 LIMCH1 4 41,317,805 764 LIMCH1 4 41,376,499 765 LIMCH1 4 41,394,864 766 LPHN3 4 62,506,258 767 LPHN3 4 62,528,085 768 LPHN3 4 62,708,418 769 LPHN3 4 62,719,919 770 NPFFR2 4 73,122,046 771 NPFFR2 4 73,122,182 772 NPFFR2 4 73,143,891 773 NPFFR2 4 73,145,571 774 NPFFR2 4 73,145,990 775 NPFFR2 4 73,147,681 776 NPFFR2 4 73,153,403 777 NPFFR2 4 73,160,673 778 NPFFR2 4 73,161,337 779 NPFFR2 4 73,199,922 780 NPFFR2 4 73,200,677 781 NPFFR2 4 73,263,574 782 NPFFR2 4 73,283,790 783 NPFFR2 4 73,291,379 784 SCARB2 4 77,296,450 785 SCARB2 4 77,296,499 786 SHROOM3 4 77,850,449 787 SHROOM3 4 77,850,911 788 SHROOM3 4 77,855,667 789 SHROOM3 4 77,859,641 790 SCD5 4 83,785,141 791 GPRIN3 4 90,386,804 792 GPRIN3 4 90,388,948 793 GPRIN3 4 90,399,512 794 GPRIN3 4 90,438,516 795 GPRIN3 4 90,442,126 796 GRID2 4 93,686,509 797 GRID2 4 93,747,063 798 GRID2 4 93,758,555 799 GRID2 4 94,519,182 800 GRID2 4 94,577,046 801 GRID2 4 94,605,786 802 GRID2 4 94,706,340 803 GRID2 4 94,760,264 804 GRID2 4 94,760,609 805 GRID2 4 94,768,297 806 GRID2 4 94,776,578 807 GRID2 4 94,872,717 808 GRID2 4 94,911,369 809 GRID2 4 94,919,018 810 GRID2 4 94,919,599 811 UNC5C 4 96,459,368 812 UNC5C 4 96,604,340 813 UNC5C 4 96,610,041 814 UNC5C 4 96,620,115 815 UNC5C 4 96,624,936 816 UNC5C 4 96,626,563 817 UNC5C 4 96,626,795 818 UNC5C 4 96,633,345 819 UNC5C 4 96,656,785 820 ADH1C 4 100,261,126 821 PPP3CA 4 102,128,589 822 PPP3CA 4 102,143,083 823 PPP3CA 4 102,187,634 824 PPP3CA 4 102,189,271 825 PPP3CA 4 102,198,890 826 PPP3CA 4 102,368,237 827 PAPSS1 4 108,754,784 828 PAPSS1 4 108,829,312 829 PAPSS1 4 108,831,390 830 PAPSS1 4 108,831,450 831 PAPSS1 4 108,834,075 832 PAPSS1 4 108,843,216 833 PAPSS1 4 108,843,960 834 PAPSS1 4 108,855,111 835 COL25A1 4 109,985,739 836 COL25A1 4 109,987,393 837 COL25A1 4 110,067,552 838 COL25A1 4 110,400,686 839 COL25A1 4 110,409,320 840 COL25A1 4 110,413,733 841 COL25A1 4 110,474,589 842 ANK2 4 114,190,823 843 ANK2 4 114,328,632 844 ANK2 4 114,329,042 845 ANK2 4 114,329,441 846 ANK2 4 114,340,609 847 ANK2 4 114,429,212 848 ANK2 4 114,437,446 849 CAMK2D 4 114,656,174 850 CAMK2D 4 114,715,574 851 PRSS12 4 119,488,872 852 PRSS12 4 119,498,546 853 PRSS12 4 119,518,526 854 MAML3 4 140,896,430 855 MAML3 4 141,044,880 856 MAML3 4 141,051,231 857 MAML3 4 141,099,379 858 MAML3 4 141,130,298 859 MAML3 4 141,138,533 860 MAML3 4 141,140,107 861 MAML3 4 141,142,480 862 MAML3 4 141,196,186 863 MAML3 4 141,273,298 864 MAML3 4 141,383,990 865 IL15 4 142,737,011 866 INPP4B 4 143,274,371 867 INPP4B 4 143,288,240 868 INPP4B 4 143,292,058 869 INPP4B 4 143,296,851 870 INPP4B 4 143,300,521 871 INPP4B 4 143,314,721 872 INPP4B 4 143,392,444 873 INPP4B 4 143,414,201 874 INPP4B 4 143,421,104 875 INPP4B 4 143,436,841 876 INPP4B 4 143,437,563 877 INPP4B 4 143,508,343 878 INPP4B 4 143,516,488 879 INPP4B 4 143,524,042 880 INPP4B 4 143,547,226 881 INPP4B 4 143,563,055 882 INPP4B 4 143,566,886 883 POU4F2 4 147,726,913 884 POU4F2 4 147,731,368 885 POU4F2 4 147,737,119 886 POU4F2 4 147,739,219 887 POU4F2 4 147,748,659 888 POU4F2 4 147,758,283 889 DCLK2 4 151,204,307 890 DCLK2 4 151,235,111 891 DCLK2 4 151,346,175 892 DCLK2 4 151,366,761 893 CTSO 4 157,073,518 894 CTSO 4 157,090,787 895 CTSO 4 157,091,152 896 CTSO 4 157,092,343 897 FSTL5 4 163,159,232 898 FSTL5 4 163,172,602 899 FSTL5 4 163,198,742 900 FSTL5 4 163,204,852 901 FSTL5 4 163,274,800 902 FSTL5 4 163,275,058 903 FSTL5 4 163,281,294 904 FSTL5 4 163,282,207 905 FSTL5 4 163,306,761 906 FSTL5 4 163,316,993 907 FSTL5 4 163,355,152 908 FSTL5 4 163,369,235 909 FSTL5 4 163,379,495 910 TLL1 4 167,169,368 911 TLL1 4 167,239,774 912 PALLD 4 169,650,759 913 PALLD 4 169,666,940 914 PALLD 4 169,678,372 915 PALLD 4 169,684,095 916 PALLD 4 169,759,910 917 PALLD 4 169,828,987 918 PALLD 4 169,855,143 919 PALLD 4 169,866,028 920 PALLD 4 169,894,890 921 PALLD 4 169,910,404 922 PALLD 4 170,065,920 923 PALLD 4 170,082,830 924 PALLD 4 170,113,748 925 PALLD 4 170,117,820 926 PALLD 4 170,118,492 927 PALLD 4 170,135,598 928 GPM6A 4 176,811,484 929 GPM6A 4 177,178,625 930 ODZ3 4 183,917,599 931 ODZ3 4 183,918,042 932 ODZ3 4 183,918,858 933 ENPP6 4 185,228,598 934 ENPP6 4 185,266,961 935 CASP3 4 185,808,551 936 SLC6A3 5 1,415,793 937 SLC6A3 5 1,480,803 938 SLC6A3 5 1,481,011 939 SLC6A3 5 1,481,514 940 SLC6A3 5 1,496,728 941 SEMA5A 5 9,243,404 942 SEMA5A 5 9,495,994 943 SEMA5A 5 9,611,762 944 SEMA5A 5 9,612,903 945 SEMA5A 5 9,613,249 946 CTNND2 5 11,160,238 947 CTNND2 5 11,207,447 948 CTNND2 5 11,250,495 949 CTNND2 5 11,252,301 950 CTNND2 5 11,271,488 951 CTNND2 5 11,351,223 952 CTNND2 5 11,476,628 953 CTNND2 5 11,478,745 954 CTNND2 5 11,975,555 955 CTNND2 5 11,975,628 956 CTNND2 5 11,982,913 957 CTNND2 5 12,002,210 958 CTNND2 5 12,002,315 959 DNAH5 5 13,774,378 960 DNAH5 5 13,957,400 961 DNAH5 5 13,963,535 962 MYO10 5 16,711,524 963 MYO10 5 17,022,392 964 BASP1 5 17,264,649 965 BASP1 5 17,266,319 966 BASP1 5 17,266,365 967 CDH10 5 24,643,409 968 CDH10 5 24,645,127 969 CDH10 5 24,674,827 970 C1QTNF3 5 34,051,438 971 C1QTNF3 5 34,054,261 972 C1QTNF3 5 34,058,118 973 C1QTNF3 5 34,091,777 974 SLC1A3 5 36,637,612 975 SLC1A3 5 36,668,160 976 EGFLAM 5 38,301,820 977 EGFLAM 5 38,357,801 978 EGFLAM 5 38,386,400 979 ITGA1 5 52,111,244 980 ITGA1 5 52,114,759 981 ITGA1 5 52,130,669 982 ITGA1 5 52,134,676 983 ITGA1 5 52,185,208 984 ITGA1 5 52,185,286 985 ITGA1 5 52,190,752 986 ITGA1 5 52,285,233 987 ITGA1 5 52,294,108 988 ITGA2 5 52,369,177 989 ITGA2 5 52,376,821 990 ITGA2 5 52,388,971 991 ITGA2 5 52,394,644 992 ITGA2 5 52,394,794 993 ITGA2 5 52,406,189 994 ITGA2 5 52,417,975 995 ITGA2 5 52,418,412 996 ITGA2 5 52,418,682 997 PDE4D 5 58,406,595 998 PDE4D 5 58,429,089 999 PDE4D 5 58,511,874 1000 PDE4D 5 58,669,849 1001 PDE4D 5 58,895,884 1002 PDE4D 5 58,935,951 1003 PDE4D 5 58,937,131 1004 PDE4D 5 58,941,526 1005 ELOVL7 5 60,099,268 1006 ELOVL7 5 60,102,082 1007 ELOVL7 5 60,131,029 1008 ELOVL7 5 60,132,254 1009 ELOVL7 5 60,152,959 1010 ELOVL7 5 60,171,719 1011 ELOVL7 5 60,201,944 1012 PIK3R1 5 67,558,478 1013 PIK3R1 5 67,564,947 1014 MAP1B 5 71,528,490 1015 TNPO1 5 72,201,677 1016 TNPO1 5 72,268,268 1017 FCHO2 5 72,359,464 1018 FCHO2 5 72,382,846 1019 FCHO2 5 72,397,388 1020 FCHO2 5 72,397,906 1021 FCHO2 5 72,401,612 1022 FCHO2 5 72,413,771 1023 FCHO2 5 72,429,851 1024 PDE8B 5 76,535,298 1025 PDE8B 5 76,549,775 1026 PDE8B 5 76,656,410 1027 PDE8B 5 76,659,055 1028 PDE8B 5 76,676,601 1029 PDE8B 5 76,707,804 1030 PDE8B 5 76,712,714 1031 PDE8B 5 76,728,438 1032 PDE8B 5 76,753,826 1033 PDE8B 5 76,761,338 1034 SCAMP1 5 77,716,826 1035 SCAMP1 5 77,744,823 1036 SCAMP1 5 77,754,972 1037 SCAMP1 5 77,755,075 1038 SCAMP1 5 77,775,583 1039 SCAMP1 5 77,780,932 1040 SCAMP1 5 77,781,293 1041 SCAMP1 5 77,804,758 1042 SCAMP1 5 77,818,845 1043 SCAMP1 5 77,822,520 1044 CMYA5 5 79,056,182 1045 CMYA5 5 79,058,467 1046 CMYA5 5 79,060,490 1047 CMYA5 5 79,073,027 1048 CMYA5 5 79,073,240 1049 CMYA5 5 79,074,951 1050 CMYA5 5 79,076,813 1051 CMYA5 5 79,136,873 1052 MEF2C 5 88,039,159 1053 MEF2C 5 88,074,146 1054 MEF2C 5 88,078,052 1055 MEF2C 5 88,090,048 1056 MEF2C 5 88,090,519 1057 MEF2C 5 88,156,944 1058 MEF2C 5 88,159,879 1059 MEF2C 5 88,161,609 1060 MEF2C 5 88,173,798 1061 GPR98 5 89,883,625 1062 GPR98 5 89,893,330 1063 GPR98 5 90,010,394 1064 GPR98 5 90,058,163 1065 GPR98 5 90,064,161 1066 GPR98 5 90,071,845 1067 GPR98 5 90,379,334 1068 GPR98 5 90,420,854 1069 GPR98 5 90,428,377 1070 FBXL17 5 107,377,610 1071 FBXL17 5 107,380,193 1072 FBXL17 5 107,381,014 1073 FBXL17 5 107,420,461 1074 FBXL17 5 107,423,133 1075 FBXL17 5 107,428,404 1076 FBXL17 5 107,429,502 1077 FBXL17 5 107,433,375 1078 FBXL17 5 107,522,936 1079 FBXL17 5 107,546,460 1080 FBXL17 5 107,564,803 1081 PJA2 5 108,686,797 1082 PJA2 5 108,694,666 1083 PJA2 5 108,727,060 1084 PJA2 5 108,727,773 1085 PJA2 5 108,758,672 1086 PJA2 5 108,776,974 1087 PJA2 5 108,780,765 1088 PJA2 5 108,781,038 1089 PJA2 5 108,782,510 1090 PJA2 5 108,784,484 1091 PJA2 5 108,787,364 1092 PJA2 5 108,803,710 1093 PJA2 5 108,812,698 1094 KCNN2 5 113,836,032 1095 KCNN2 5 113,836,263 1096 SEMA6A 5 115,855,255 1097 SEMA6A 5 115,855,306 1098 ADAMTS19 5 128,915,938 1099 ADAMTS19 5 128,968,517 1100 ADAMTS19 5 128,968,799 1101 ADAMTS19 5 128,986,841 1102 ADAMTS19 5 129,018,892 1103 ADAMTS19 5 129,019,131 1104 ADAMTS19 5 129,024,772 1105 ADAMTS19 5 129,033,634 1106 ADAMTS19 5 129,034,142 1107 ADAMTS19 5 129,039,887 1108 ADAMTS19 5 129,078,440 1109 VDAC1 5 133,335,005 1110 VDAC1 5 133,355,058 1111 VDAC1 5 133,356,459 1112 VDAC1 5 133,405,061 1113 TRPC7 5 135,547,908 1114 TRPC7 5 135,551,643 1115 TRPC7 5 135,557,803 1116 TRPC7 5 135,660,209 1117 TRPC7 5 135,674,104 1118 TRPC7 5 135,678,197 1119 TRPC7 5 135,679,839 1120 TRPC7 5 135,680,121 1121 TRPC7 5 135,689,800 1122 TRPC7 5 135,693,248 1123 TRPC7 5 135,708,380 1124 TRPC7 5 135,712,132 1125 TRPC7 5 135,713,994 1126 TRPC7 5 135,724,949 1127 TRPC7 5 135,725,523 1128 TRPC7 5 135,733,573 1129 TRPC7 5 135,734,750 1130 GRIA1 5 152,884,137 1131 GRIA1 5 152,949,087 1132 GRIA1 5 152,956,518 1133 GRIA1 5 153,167,666 1134 ODZ2 5 166,910,625 1135 ODZ2 5 167,105,972 1136 ODZ2 5 167,177,338 1137 ODZ2 5 167,189,249 1138 ODZ2 5 167,313,056 1139 ODZ2 5 167,345,783 1140 ODZ2 5 167,400,913 1141 ODZ2 5 167,601,421 1142 ODZ2 5 167,604,683 1143 ODZ2 5 167,611,516 1144 ODZ2 5 167,634,619 1145 WWC1 5 167,641,813 1146 WWC1 5 167,785,852 1147 WWC1 5 167,818,328 1148 WWC1 5 167,819,115 1149 WWC1 5 167,819,275 1150 WWC1 5 167,820,009 1151 KCNIP1 5 169,709,852 1152 KCNIP1 5 169,709,936 1153 KCNIP1 5 169,710,014 1154 KCNIP1 5 170,021,180 1155 KCNIP1 5 170,078,162 1156 KCNIP1 5 170,095,949 1157 STK10 5 171,538,167 1158 EXOC2 6 417,807 1159 EXOC2 6 418,248 1160 EXOC2 6 420,154 1161 EXOC2 6 420,810 1162 EXOC2 6 441,555 1163 EXOC2 6 536,765 1164 EXOC2 6 541,042 1165 EXOC2 6 542,871 1166 EXOC2 6 555,542 1167 EXOC2 6 559,375 1168 EXOC2 6 577,061 1169 SERPINB6 6 2,876,878 1170 SERPINB6 6 2,926,223 1171 PHACTR1 6 12,837,251 1172 PHACTR1 6 13,386,732 1173 JARID2 6 15,355,372 1174 JARID2 6 15,499,187 1175 JARID2 6 15,503,960 1176 JARID2 6 15,505,614 1177 JARID2 6 15,512,229 1178 JARID2 6 15,516,507 1179 JARID2 6 15,537,710 1180 JARID2 6 15,545,369 1181 JARID2 6 15,567,913 1182 JARID2 6 15,598,338 1183 ATXN1 6 16,595,223 1184 ATXN1 6 16,595,385 1185 ATXN1 6 16,681,514 1186 ATXN1 6 16,755,137 1187 ATXN1 6 16,762,029 1188 ATXN1 6 16,766,596 1189 ATXN1 6 16,767,074 1190 ATXN1 6 16,767,110 1191 ATXN1 6 16,779,315 1192 ATXN1 6 16,780,739 1193 ATXN1 6 16,791,838 1194 ATXN1 6 16,799,821 1195 ATXN1 6 16,850,744 1196 SLC17A4 6 25,880,026 1197 SLC17A4 6 25,880,618 1198 SLC17A4 6 25,887,371 1199 SLC17A1 6 25,909,950 1200 SLC17A1 6 25,921,129 1201 SLC17A1 6 25,926,734 1202 SLC17A1 6 25,928,407 1203 SLC17A1 6 25,948,464 1204 SLC17A1 6 25,949,101 1205 SLC17A3 6 25,967,533 1206 SLC17A3 6 25,970,445 1207 SLC17A3 6 25,971,584 1208 SLC17A3 6 25,972,877 1209 SLC17A3 6 25,973,245 1210 SLC17A3 6 25,977,827 1211 SLC17A3 6 25,978,521 1212 BTN3A1 6 26,504,182 1213 BTN3A1 6 26,506,534 1214 BTN3A1 6 26,512,353 1215 BTN3A1 6 26,513,243 1216 BTN3A1 6 26,513,969 1217 MSH5 6 31,826,581 1218 MSH5 6 31,838,993 1219 LRFN2 6 40,635,612 1220 LRFN2 6 40,640,871 1221 KLC4 6 43,131,349 1222 PARC 6 43,293,711 1223 TJAP1 6 43,598,787 1224 XPO5 6 43,606,651 1225 XPO5 6 43,621,785 1226 XPO5 6 43,636,419 1227 XPO5 6 43,648,904 1228 TMEM63B 6 44,201,720 1229 ELOVL5 6 53,213,187 1230 ELOVL5 6 53,282,407 1231 ELOVL5 6 53,341,053 1232 ELOVL5 6 53,350,763 1233 ELOVL5 6 53,362,070 1234 RIMS1 6 72,866,546 1235 RIMS1 6 72,932,594 1236 HTR1B 6 78,228,979 1237 HTR1B 6 78,247,981 1238 GABRR2 6 90,031,297 1239 GABRR2 6 90,052,273 1240 TRDN 6 123,681,714 1241 TRDN 6 123,707,645 1242 TRDN 6 123,730,952 1243 TRDN 6 123,731,764 1244 TRDN 6 123,747,133 1245 TRDN 6 123,749,431 1246 TRDN 6 123,753,539 1247 TRDN 6 123,790,942 1248 TRDN 6 123,878,251 1249 TRDN 6 123,963,305 1250 TRDN 6 123,982,387 1251 TRDN 6 123,983,371 1252 TRDN 6 123,983,783 1253 TRDN 6 123,991,308 1254 TRDN 6 123,992,112 1255 TRDN 6 124,006,657 1256 TRDN 6 124,007,196 1257 TRDN 6 124,008,072 1258 TRDN 6 124,011,033 1259 NKAIN2 6 124,074,609 1260 NKAIN2 6 124,085,957 1261 NKAIN2 6 124,977,809 1262 EYA4 6 133,668,941 1263 EYA4 6 133,672,254 1264 EYA4 6 133,678,316 1265 EYA4 6 133,684,611 1266 PDE7B 6 136,337,547 1267 PDE7B 6 136,391,000 1268 PDE7B 6 136,402,540 1269 PDE7B 6 136,472,958 1270 PDE7B 6 136,555,234 1271 PLAGL1 6 144,345,925 1272 PLAGL1 6 144,355,380 1273 STX11 6 144,554,694 1274 UTRN 6 144,943,208 1275 UTRN 6 145,213,578 1276 SYNE1 6 152,534,210 1277 SYNE1 6 152,534,429 1278 SYNE1 6 152,535,158 1279 SYNE1 6 152,535,230 1280 SYNE1 6 152,549,890 1281 SLC22A3 6 160,664,141 1282 SLC22A3 6 160,701,723 1283 PARK2 6 161,894,294 1284 PARK2 6 161,894,946 1285 PACRG 6 163,512,225 1286 PACRG 6 163,523,252 1287 PACRG 6 163,571,731 1288 PACRG 6 163,656,492 1289 PDE10A 6 165,656,576 1290 PDE10A 6 165,657,424 1291 PDE10A 6 165,659,019 1292 PDE10A 6 165,711,808 1293 PDE10A 6 165,865,960 1294 PDE10A 6 165,868,876 1295 SDK1 7 4,133,862 1296 SDK1 7 4,141,415 1297 SDK1 7 4,142,841 1298 NXPH1 7 8,633,152 1299 NXPH1 7 8,633,615 1300 NXPH1 7 8,637,519 1301 NXPH1 7 8,642,990 1302 NXPH1 7 8,647,759 1303 NXPH1 7 8,662,332 1304 NXPH1 7 8,662,442 1305 NXPH1 7 8,758,143 1306 ETV1 7 13,882,768 1307 DGKB 7 14,179,937 1308 DGKB 7 14,181,086 1309 DGKB 7 14,213,223 1310 DGKB 7 14,213,591 1311 DGKB 7 14,557,877 1312 DGKB 7 14,663,822 1313 DGKB 7 14,795,170 1314 DGKB 7 14,816,578 1315 DGKB 7 14,817,686 1316 DGKB 7 14,818,142 1317 TSPAN13 7 16,770,515 1318 SNX13 7 17,949,822 1319 SNX13 7 17,950,332 1320 SNX13 7 17,955,884 1321 STK31 7 23,712,523 1322 STK31 7 23,790,538 1323 STK31 7 23,796,703 1324 STK31 7 23,844,516 1325 STK31 7 23,859,520 1326 SKAP2 7 26,814,684 1327 SKAP2 7 26,825,824 1328 SKAP2 7 26,830,698 1329 SKAP2 7 26,862,761 1330 CREB5 7 28,798,822 1331 CREB5 7 28,808,592 1332 PLEKHA8 7 30,037,069 1333 PLEKHA8 7 30,081,142 1334 CRHR2 7 30,665,429 1335 PDE1C 7 31,821,130 1336 PDE1C 7 31,822,595 1337 PDE1C 7 31,835,138 1338 PDE1C 7 31,838,385 1339 PDE1C 7 31,841,400 1340 BMPER 7 34,020,913 1341 BMPER 7 34,057,259 1342 BMPER 7 34,067,083 1343 BMPER 7 34,077,746 1344 BMPER 7 34,159,287 1345 EEPD1 7 36,145,203 1346 EEPD1 7 36,235,809 1347 VPS41 7 38,708,501 1348 VPS41 7 38,738,392 1349 VPS41 7 38,750,276 1350 VPS41 7 38,757,077 1351 VPS41 7 38,757,472 1352 VPS41 7 38,759,768 1353 VPS41 7 38,761,292 1354 VPS41 7 38,776,517 1355 VPS41 7 38,784,656 1356 VPS41 7 38,798,095 1357 VPS41 7 38,798,875 1358 VPS41 7 38,800,593 1359 VPS41 7 38,806,116 1360 VPS41 7 38,812,386 1361 VPS41 7 38,820,297 1362 VPS41 7 38,820,469 1363 VPS41 7 38,828,636 1364 VPS41 7 38,836,969 1365 VPS41 7 38,850,065 1366 VPS41 7 38,882,602 1367 VPS41 7 38,925,791 1368 VPS41 7 38,926,367 1369 VPS41 7 38,936,691 1370 IGFBP3 7 45,875,519 1371 IGFBP3 7 45,916,971 1372 IGFBP3 7 46,061,993 1373 ABCA13 7 48,240,607 1374 ABCA13 7 48,245,100 1375 ABCA13 7 48,250,081 1376 ABCA13 7 48,250,147 1377 ABCA13 7 48,253,360 1378 ABCA13 7 48,256,966 1379 ABCA13 7 48,261,753 1380 ABCA13 7 48,262,848 1381 ABCA13 7 48,263,650 1382 ABCA13 7 48,275,993 1383 ABCA13 7 48,415,696 1384 ABCA13 7 48,427,057 1385 ABCA13 7 48,537,723 1386 ABCA13 7 48,538,115 1387 ABCA13 7 48,549,904 1388 ABCA13 7 48,551,488 1389 ABCA13 7 48,576,570 1390 ABCA13 7 48,577,426 1391 ABCA13 7 48,642,999 1392 ABCA13 7 48,664,499 1393 GRB10 7 50,706,645 1394 GRB10 7 50,706,949 1395 GRB10 7 50,707,020 1396 GRB10 7 50,707,082 1397 GRB10 7 50,712,801 1398 GRB10 7 50,723,008 1399 GRB10 7 50,727,714 1400 GRB10 7 50,735,647 1401 GRB10 7 50,750,413 1402 GRB10 7 50,752,942 1403 GRB10 7 50,753,544 1404 GRB10 7 50,769,928 1405 GRB10 7 50,775,527 1406 GRB10 7 50,775,581 1407 GRB10 7 50,777,265 1408 GRB10 7 50,790,805 1409 GRB10 7 50,791,895 1410 GRB10 7 50,797,467 1411 GRB10 7 50,803,980 1412 GRB10 7 50,807,550 1413 GRB10 7 50,820,922 1414 GRB10 7 50,823,003 1415 GRB10 7 50,823,341 1416 GRB10 7 50,839,403 1417 GRB10 7 50,839,923 1418 WBSCR17 7 70,218,616 1419 WBSCR17 7 70,314,044 1420 WBSCR17 7 70,765,881 1421 WBSCR17 7 70,771,838 1422 CALN1 7 70,886,612 1423 CALN1 7 70,889,691 1424 CALN1 7 71,180,137 1425 CALN1 7 71,196,919 1426 CALN1 7 71,206,186 1427 CALN1 7 71,212,064 1428 CALN1 7 71,214,046 1429 CALN1 7 71,235,264 1430 CALN1 7 71,235,395 1431 CALN1 7 71,377,109 1432 CALN1 7 71,446,681 1433 CALN1 7 71,464,567 1434 CALN1 7 71,472,868 1435 CALN1 7 71,475,237 1436 CALN1 7 71,505,190 1437 GTF2IRD1 7 73,545,909 1438 MAGI2 7 77,807,229 1439 MAGI2 7 77,811,392 1440 MAGI2 7 77,811,723 1441 MAGI2 7 78,083,120 1442 MAGI2 7 78,087,129 1443 MAGI2 7 78,735,107 1444 MAGI2 7 78,753,565 1445 MAGI2 7 78,817,962 1446 MAGI2 7 78,824,996 1447 MAGI2 7 78,825,573 1448 MAGI2 7 78,829,240 1449 CACNA2D1 7 81,438,378 1450 CACNA2D1 7 81,442,364 1451 PCLO 7 82,393,605 1452 PCLO 7 82,395,097 1453 PCLO 7 82,401,047 1454 PCLO 7 82,401,452 1455 PCLO 7 82,411,459 1456 PCLO 7 82,454,771 1457 PCLO 7 82,650,074 1458 PCLO 7 82,659,120 1459 GRM3 7 86,189,153 1460 GRM3 7 86,254,957 1461 GRM3 7 86,255,781 1462 GRM3 7 86,266,144 1463 ADAM22 7 87,469,462 1464 ADAM22 7 87,539,714 1465 ADAM22 7 87,590,464 1466 PPP1R9A 7 94,589,831 1467 PPP1R9A 7 94,632,721 1468 PPP1R9A 7 94,733,892 1469 PPP1R9A 7 94,734,041 1470 PPP1R9A 7 94,742,812 1471 PPP1R9A 7 94,746,827 1472 PPP1R9A 7 94,747,431 1473 PPP1R9A 7 94,747,598 1474 PPP1R9A 7 94,748,184 1475 PPP1R9A 7 94,750,340 1476 DYNC1I1 7 95,258,613 1477 DYNC1I1 7 95,325,994 1478 DYNC1I1 7 95,336,462 1479 DYNC1I1 7 95,386,677 1480 ZNF3 7 99,429,354 1481 ZNF3 7 99,480,681 1482 EMID2 7 100,868,518 1483 EMID2 7 100,878,190 1484 CUX1 7 101,700,855 1485 CUX1 7 101,712,058 1486 CUX1 7 101,758,636 1487 NRCAM 7 107,585,096 1488 NRCAM 7 107,587,783 1489 NRCAM 7 107,588,905 1490 NRCAM 7 107,598,938 1491 NRCAM 7 107,621,970 1492 NRCAM 7 107,626,668 1493 NRCAM 7 107,628,207 1494 NRCAM 7 107,654,504 1495 NRCAM 7 107,657,867 1496 NRCAM 7 107,731,054 1497 KCND2 7 119,693,426 1498 KCND2 7 119,956,552 1499 KCND2 7 119,967,907 1500 KCND2 7 120,089,523 1501 CADPS2 7 121,760,839 1502 CADPS2 7 121,767,778 1503 CADPS2 7 121,805,395 1504 CADPS2 7 122,314,434 1505 SLC13A1 7 122,533,104 1506 SLC13A1 7 122,557,321 1507 SLC13A1 7 122,560,268 1508 SLC13A1 7 122,590,060 1509 SLC13A1 7 122,594,916 1510 SLC13A1 7 122,595,280 1511 SLC13A1 7 122,596,347 1512 GRM8 7 125,866,380 1513 GRM8 7 125,872,156 1514 GRM8 7 125,880,817 1515 GRM8 7 125,918,108 1516 GRM8 7 125,923,221 1517 GRM8 7 125,938,463 1518 GRM8 7 125,940,799 1519 GRM8 7 125,941,472 1520 GRM8 7 125,959,757 1521 GRM8 7 125,979,607 1522 GRM8 7 126,435,292 1523 GRM8 7 126,436,133 1524 GRM8 7 126,444,781 1525 GRM8 7 126,483,848 1526 GRM8 7 126,499,299 1527 GRM8 7 126,499,423 1528 GRM8 7 126,504,393 1529 GRM8 7 126,521,407 1530 GRM8 7 126,581,967 1531 GRM8 7 126,624,857 1532 DGKI 7 136,749,535 1533 DGKI 7 136,757,487 1534 DGKI 7 136,769,973 1535 DGKI 7 136,780,737 1536 DGKI 7 136,782,783 1537 DGKI 7 136,787,596 1538 DGKI 7 136,885,223 1539 DGKI 7 136,888,628 1540 DGKI 7 136,888,749 1541 CREB3L2 7 137,203,650 1542 CREB3L2 7 137,211,237 1543 CREB3L2 7 137,342,248 1544 CREB3L2 7 137,343,428 1545 TBXAS1 7 139,342,717 1546 TBXAS1 7 139,369,869 1547 CNTNAP2 7 146,670,511 1548 CNTNAP2 7 146,671,711 1549 CNTNAP2 7 146,671,930 1550 CNTNAP2 7 146,673,648 1551 CNTNAP2 7 146,706,249 1552 CNTNAP2 7 146,723,973 1553 CNTNAP2 7 146,724,262 1554 CNTNAP2 7 146,782,515 1555 CNTNAP2 7 146,786,412 1556 CNTNAP2 7 146,786,448 1557 CNTNAP2 7 146,788,290 1558 CNTNAP2 7 146,791,664 1559 CNTNAP2 7 146,791,891 1560 CNTNAP2 7 146,792,055 1561 CNTNAP2 7 146,792,712 1562 CNTNAP2 7 146,794,158 1563 CNTNAP2 7 146,795,212 1564 CNTNAP2 7 146,795,377 1565 CNTNAP2 7 146,795,593 1566 CNTNAP2 7 146,798,866 1567 CNTNAP2 7 146,800,067 1568 CNTNAP2 7 146,800,208 1569 CNTNAP2 7 146,816,270 1570 CNTNAP2 7 146,816,456 1571 CNTNAP2 7 147,067,210 1572 CNTNAP2 7 147,088,310 1573 CNTNAP2 7 147,748,379 1574 ACCN3 7 150,382,999 1575 DPP6 7 154,100,079 1576 DPP6 7 154,132,604 1577 DPP6 7 154,143,043 1578 HTR5A 7 154,513,733 1579 HTR5A 7 154,518,336 1580 PTPRN2 7 157,055,372 1581 PTPRN2 7 157,060,284 1582 PTPRN2 7 157,062,744 1583 PTPRN2 7 157,509,808 1584 PTPRN2 7 157,519,106 1585 PTPRN2 7 157,647,665 1586 CSMD1 8 2,793,553 1587 CSMD1 8 2,795,939 1588 CSMD1 8 3,202,280 1589 CSMD1 8 3,202,904 1590 CSMD1 8 3,218,544 1591 CSMD1 8 3,228,881 1592 CSMD1 8 3,242,988 1593 CSMD1 8 3,245,103 1594 CSMD1 8 3,246,122 1595 CSMD1 8 3,248,205 1596 CSMD1 8 3,252,146 1597 MCPH1 8 6,305,755 1598 MCPH1 8 6,355,722 1599 MCPH1 8 6,357,338 1600 MCPH1 8 6,362,452 1601 MCPH1 8 6,383,317 1602 MCPH1 8 6,384,278 1603 MCPH1 8 6,384,838 1604 MCPH1 8 6,402,090 1605 MCPH1 8 6,407,942 1606 MCPH1 8 6,407,982 1607 MCPH1 8 6,414,463 1608 MCPH1 8 6,480,594 1609 ANGPT2 8 6,522,454 1610 DLC1 8 13,033,085 1611 SGCZ 8 14,292,030 1612 SGCZ 8 14,297,725 1613 SGCZ 8 14,303,019 1614 SGCZ 8 14,567,685 1615 SGCZ 8 14,594,527 1616 SGCZ 8 14,594,583 1617 SGCZ 8 14,603,034 1618 SGCZ 8 14,619,388 1619 SLC7A2 8 17,456,102 1620 SLC7A2 8 17,480,172 1621 PSD3 8 18,467,203 1622 PSD3 8 18,469,732 1623 PSD3 8 18,708,574 1624 PSD3 8 18,709,420 1625 PSD3 8 18,819,182 1626 ATP6V1B2 8 20,110,329 1627 ATP6V1B2 8 20,116,050 1628 XPO7 8 21,934,553 1629 PPP3CC 8 22,390,555 1630 PPP3CC 8 22,391,033 1631 PPP3CC 8 22,416,883 1632 PPP3CC 8 22,417,197 1633 PPP3CC 8 22,421,890 1634 PPP3CC 8 22,438,725 1635 PPP3CC 8 22,451,254 1636 PPP3CC 8 22,451,454 1637 PEBP4 8 22,872,629 1638 SLC25A37 8 23,454,180 1639 SLC25A37 8 23,479,642 1640 SLC25A37 8 23,487,137 1641 SLC25A37 8 23,490,677 1642 UNC5D 8 35,523,511 1643 UNC5D 8 35,531,300 1644 UNC5D 8 35,534,179 1645 UNC5D 8 35,534,272 1646 UNC5D 8 35,543,336 1647 UNC5D 8 35,855,073 1648 UNC5D 8 36,042,355 1649 UNC5D 8 36,055,367 1650 SFRP1 8 41,221,920 1651 SFRP1 8 41,238,711 1652 SFRP1 8 41,254,926 1653 PRKDC 8 48,805,431 1654 PRKDC 8 49,014,881 1655 SNTG1 8 50,990,529 1656 SNTG1 8 50,990,561 1657 SNTG1 8 50,996,988 1658 SNTG1 8 51,010,187 1659 SNTG1 8 51,028,383 1660 SNTG1 8 51,035,846 1661 SNTG1 8 51,042,787 1662 SNTG1 8 51,049,706 1663 SNTG1 8 51,054,533 1664 SNTG1 8 51,058,990 1665 SNTG1 8 51,082,766 1666 SNTG1 8 51,102,449 1667 SNTG1 8 51,173,297 1668 SNTG1 8 51,234,295 1669 SNTG1 8 51,235,510 1670 SNTG1 8 51,320,466 1671 SNTG1 8 51,527,844 1672 SNTG1 8 51,542,530 1673 LYN 8 56,942,219 1674 LYN 8 57,038,773 1675 LYN 8 57,039,144 1676 LYN 8 57,039,314 1677 LYN 8 57,045,025 1678 LYN 8 57,068,622 1679 TOX 8 59,968,292 1680 TOX 8 60,006,808 1681 NKAIN3 8 63,276,675 1682 NKAIN3 8 63,524,869 1683 NKAIN3 8 63,553,374 1684 NKAIN3 8 63,555,581 1685 NKAIN3 8 63,588,448 1686 NKAIN3 8 63,644,314 1687 NKAIN3 8 64,033,212 1688 NKAIN3 8 64,033,505 1689 DEPDC2 8 69,166,435 1690 DEPDC2 8 69,176,632 1691 DEPDC2 8 69,177,796 1692 KCNB2 8 73,754,111 1693 KCNB2 8 73,756,664 1694 KCNB2 8 73,762,984 1695 KCNB2 8 73,771,914 1696 KCNB2 8 73,776,211 1697 KCNB2 8 73,780,154 1698 KCNB2 8 73,783,806 1699 KCNB2 8 73,798,241 1700 KCNB2 8 73,799,263 1701 KCNB2 8 73,811,601 1702 KCNB2 8 73,818,016 1703 KCNB2 8 73,901,806 1704 KCNB2 8 73,905,902 1705 KCNB2 8 73,906,242 1706 KCNB2 8 73,906,305 1707 KCNB2 8 74,001,540 1708 KCNB2 8 74,006,869 1709 MMP16 8 89,115,235 1710 MMP16 8 89,379,684 1711 MMP16 8 89,413,738 1712 MMP16 8 89,414,303 1713 MMP16 8 89,421,430 1714 GRHL2 8 102,684,162 1715 GRHL2 8 102,689,866 1716 GRHL2 8 102,701,749 1717 GRHL2 8 102,702,489 1718 GRHL2 8 102,718,857 1719 GRHL2 8 102,736,242 1720 GRHL2 8 102,744,463 1721 GRHL2 8 102,746,981 1722 GRHL2 8 102,749,085 1723 GRHL2 8 102,759,164 1724 NCALD 8 102,769,504 1725 NCALD 8 102,781,373 1726 NCALD 8 102,801,328 1727 NCALD 8 102,812,988 1728 NCALD 8 102,815,103 1729 NCALD 8 102,815,612 1730 ZFPM2 8 106,488,701 1731 ZFPM2 8 106,488,930 1732 ZFPM2 8 106,489,004 1733 ZFPM2 8 106,497,198 1734 ZFPM2 8 106,499,852 1735 ZFPM2 8 106,505,157 1736 ZFPM2 8 106,507,154 1737 ZFPM2 8 106,507,756 1738 ZFPM2 8 106,521,287 1739 ZFPM2 8 106,530,047 1740 ZFPM2 8 106,688,431 1741 ZFPM2 8 106,888,057 1742 CSMD3 8 113,274,947 1743 CSMD3 8 113,288,783 1744 CSMD3 8 113,335,045 1745 CSMD3 8 113,337,274 1746 CSMD3 8 113,338,203 1747 CSMD3 8 113,352,390 1748 CSMD3 8 113,373,346 1749 CSMD3 8 113,387,234 1750 CSMD3 8 113,443,580 1751 CSMD3 8 113,443,849 1752 CSMD3 8 113,445,071 1753 CSMD3 8 113,449,291 1754 CSMD3 8 113,451,969 1755 CSMD3 8 113,452,014 1756 CSMD3 8 113,452,239 1757 CSMD3 8 113,469,659 1758 CSMD3 8 113,470,832 1759 CSMD3 8 113,473,493 1760 CSMD3 8 113,474,100 1761 CSMD3 8 113,539,247 1762 CSMD3 8 113,554,111 1763 CSMD3 8 114,099,667 1764 CSMD3 8 114,104,594 1765 CSMD3 8 114,526,293 1766 SAMD12 8 119,448,826 1767 SAMD12 8 119,517,329 1768 FBXO32 8 124,585,035 1769 FER1L6 8 124,966,104 1770 FER1L6 8 124,991,846 1771 FER1L6 8 124,996,892 1772 FER1L6 8 124,997,443 1773 FER1L6 8 125,002,201 1774 FER1L6 8 125,010,633 1775 FER1L6 8 125,011,048 1776 FER1L6 8 125,015,766 1777 FER1L6 8 125,053,616 1778 MTSS1 8 125,688,384 1779 MTSS1 8 125,690,229 1780 MTSS1 8 125,708,636 1781 MTSS1 8 125,771,942 1782 MTSS1 8 125,793,473 1783 MTSS1 8 125,952,323 1784 MTSS1 8 125,954,015 1785 DDEF1 8 131,325,860 1786 ADCY8 8 132,056,557 1787 ADCY8 8 132,057,744 1788 ADCY8 8 132,057,791 1789 COL22A1 8 139,662,848 1790 COL22A1 8 139,662,978 1791 COL22A1 8 139,743,805 1792 COL22A1 8 139,888,333 1793 COL22A1 8 139,890,241 1794 COL22A1 8 139,892,274 1795 COL22A1 8 139,892,385 1796 COL22A1 8 139,895,678 1797 COL22A1 8 139,908,094 1798 COL22A1 8 139,972,905 1799 COL22A1 8 139,975,270 1800 COL22A1 8 139,976,026 1801 KCNK9 8 140,740,112 1802 PTP4A3 8 142,469,282 1803 SMARCA2 9 2,063,292 1804 SMARCA2 9 2,084,908 1805 SMARCA2 9 2,113,639 1806 SMARCA2 9 2,118,165 1807 SMARCA2 9 2,170,694 1808 SMARCA2 9 2,176,460 1809 SMARCA2 9 2,181,725 1810 SLC1A1 9 4,452,265 1811 SLC1A1 9 4,483,526 1812 SLC1A1 9 4,572,082 1813 SLC1A1 9 4,588,748 1814 PTPRD 9 8,415,422 1815 ADAMTSL1 9 18,718,689 1816 ASAH3L 9 19,438,473 1817 KIAA1797 9 20,682,438 1818 KIAA1797 9 20,686,043 1819 KIAA1797 9 20,725,284 1820 KIAA1797 9 20,730,433 1821 KIAA1797 9 20,732,210 1822 KIAA1797 9 20,753,840 1823 KIAA1797 9 20,754,870 1824 KIAA1797 9 20,833,841 1825 KIAA1797 9 20,872,525 1826 KIAA1797 9 20,873,199 1827 KIAA1797 9 20,873,713 1828 KIAA1797 9 20,882,952 1829 KIAA1797 9 20,989,646 1830 IFT74 9 26,935,976 1831 IFT74 9 26,936,249 1832 IFT74 9 26,999,738 1833 IFT74 9 27,022,385 1834 IFT74 9 27,031,676 1835 IFT74 9 27,056,070 1836 IFT74 9 27,063,650 1837 TEK 9 27,065,883 1838 TEK 9 27,142,292 1839 PIP5K1B 9 70,643,121 1840 PIP5K1B 9 70,647,996 1841 PIP5K1B 9 70,673,848 1842 PIP5K1B 9 70,687,329 1843 PIP5K1B 9 70,691,508 1844 PIP5K1B 9 70,700,570 1845 PIP5K1B 9 70,814,515 1846 MAMDC2 9 71,887,859 1847 MAMDC2 9 71,896,167 1848 MAMDC2 9 71,913,927 1849 MAMDC2 9 71,917,647 1850 MAMDC2 9 71,998,782 1851 TRPM3 9 72,637,875 1852 TRPM3 9 72,644,103 1853 TRPM3 9 72,648,924 1854 TRPM3 9 72,649,911 1855 TRPM3 9 72,652,604 1856 TRPM3 9 72,662,180 1857 TMC1 9 74,317,350 1858 TMC1 9 74,317,363 1859 TMC1 9 74,317,668 1860 TMC1 9 74,320,797 1861 TMC1 9 74,401,423 1862 TMC1 9 74,503,133 1863 TMC1 9 74,507,002 1864 TMC1 9 74,507,694 1865 TMC1 9 74,531,851 1866 TMC1 9 74,537,387 1867 TMC1 9 74,610,051 1868 TMC1 9 74,686,641 1869 TRPM6 9 76,540,404 1870 TRPM6 9 76,543,120 1871 TRPM6 9 76,566,467 1872 TRPM6 9 76,567,230 1873 TRPM6 9 76,570,941 1874 GNAQ 9 79,481,827 1875 GNAQ 9 79,483,477 1876 GNAQ 9 79,494,080 1877 GNAQ 9 79,517,988 1878 GNAQ 9 79,536,340 1879 GNAQ 9 79,827,513 1880 GNAQ 9 79,845,641 1881 GNAQ 9 79,868,777 1882 GNAQ 9 79,874,660 1883 GNAQ 9 79,878,161 1884 NTRK2 9 86,457,519 1885 NTRK2 9 86,464,568 1886 NTRK2 9 86,472,347 1887 NTRK2 9 86,479,100 1888 NTRK2 9 86,542,608 1889 NTRK2 9 86,553,021 1890 NTRK2 9 86,571,296 1891 NTRK2 9 86,573,597 1892 NTRK2 9 86,577,727 1893 NTRK2 9 86,579,987 1894 NTRK2 9 86,598,770 1895 NTRK2 9 86,598,798 1896 NTRK2 9 86,625,557 1897 NTRK2 9 86,631,295 1898 NTRK2 9 86,635,476 1899 DAPK1 9 89,446,457 1900 DAPK1 9 89,466,486 1901 DAPK1 9 89,518,960 1902 SHC3 9 90,813,631 1903 SHC3 9 90,829,608 1904 SHC3 9 90,846,224 1905 DIRAS2 9 92,391,092 1906 DIRAS2 9 92,432,152 1907 DIRAS2 9 92,432,978 1908 DIRAS2 9 92,453,078 1909 NFIL3 9 93,283,388 1910 ZNF169 9 96,065,119 1911 GABBR2 9 100,075,165 1912 GABBR2 9 100,094,975 1913 GABBR2 9 100,101,460 1914 GABBR2 9 100,102,891 1915 GRIN3A 9 103,379,633 1916 GRIN3A 9 103,429,073 1917 GRIN3A 9 103,440,380 1918 GRIN3A 9 103,457,375 1919 GRIN3A 9 103,467,085 1920 GRIN3A 9 103,467,403 1921 GRIN3A 9 103,468,661 1922 GRIN3A 9 103,476,464 1923 GRIN3A 9 103,481,593 1924 GRIN3A 9 103,491,159 1925 GRIN3A 9 103,516,083 1926 GRIN3A 9 103,520,656 1927 GRIN3A 9 103,535,011 1928 GRIN3A 9 103,578,372 1929 FKTN 9 107,361,938 1930 FKTN 9 107,409,195 1931 FKTN 9 107,435,753 1932 PALM2 9 111,481,826 1933 PALM2 9 111,488,202 1934 PALM2 9 111,560,947 1935 PALM2 9 111,561,356 1936 PALM2 9 111,561,384 1937 PALM2 9 111,975,567 1938 SVEP1Â 9 112,294,525 1939 SVEP1Â 9 112,396,284 1940 MUSK 9 112,443,667 1941 MUSK 9 112,562,853 1942 MUSK 9 112,600,135 1943 MUSK 9 112,615,167 1944 RGS3 9 115,354,739 1945 RGS3 9 115,368,771 1946 ZNF618 9 115,840,427 1947 DFNB31 9 116,203,827 1948 DFNB31 9 116,210,131 1949 DFNB31 9 116,216,770 1950 DFNB31 9 116,219,043 1951 DFNB31 9 116,221,058 1952 DFNB31 9 116,222,299 1953 DFNB31 9 116,222,970 1954 DFNB31 9 116,229,014 1955 DFNB31 9 116,250,139 1956 DFNB31 9 116,287,408 1957 DFNB31 9 116,290,214 1958 DFNB31 9 116,312,260 1959 DFNB31 9 116,327,990 1960 DFNB31 9 116,345,761 1961 PAPPA 9 118,151,091 1962 PAPPA 9 118,185,562 1963 PAPPA 9 118,198,635 1964 PAPPA 9 118,211,325 1965 ASTN2 9 118,293,293 1966 ASTN2 9 118,298,008 1967 ASTN2 9 118,300,987 1968 ASTN2 9 118,342,138 1969 ASTN2 9 118,421,106 1970 ASTN2 9 118,443,189 1971 ASTN2 9 118,446,482 1972 ASTN2 9 118,449,459 1973 ASTN2 9 118,450,577 1974 ASTN2 9 118,493,276 1975 ASTN2 9 118,514,893 1976 ASTN2 9 118,750,592 1977 ASTN2 9 118,752,154 1978 ASTN2 9 118,767,325 1979 ASTN2 9 118,767,524 1980 ASTN2 9 118,780,289 1981 ASTN2 9 118,782,752 1982 ASTN2 9 118,783,350 1983 ASTN2 9 118,786,221 1984 ASTN2 9 118,898,790 1985 ASTN2 9 118,900,774 1986 ASTN2 9 119,192,376 1987 ASTN2 9 119,198,404 1988 ASTN2 9 119,233,626 1989 CDK5RAP2 9 122,266,946 1990 CDK5RAP2 9 122,315,206 1991 CDK5RAP2 9 122,377,819 1992 RAB14 9 122,976,150 1993 GSN 9 123,122,996 1994 GSN 9 123,123,769 1995 GSN 9 123,135,092 1996 GSN 9 123,138,356 1997 TTLL11 9 123,780,890 1998 TTLL11 9 123,839,061 1999 TTLL11 9 123,904,206 2000 TTLL11 9 123,908,883 2001 LHX6 9 123,995,743 2002 DENND1A 9 125,236,746 2003 DENND1A 9 125,237,968 2004 DENND1A 9 125,259,527 2005 DENND1A 9 125,273,650 2006 DENND1A 9 125,274,235 2007 DENND1A 9 125,278,391 2008 DENND1A 9 125,391,244 2009 DENND1A 9 125,406,711 2010 DENND1A 9 125,457,338 2011 DENND1A 9 125,677,182 2012 DENND1A 9 125,701,433 2013 DENND1A 9 125,714,335 2014 NEK6 9 126,050,083 2015 NEK6 9 126,050,327 2016 NEK6 9 126,050,695 2017 NEK6 9 126,129,943 2018 ABL1 9 132,590,178 2019 ABL1 9 132,601,560 2020 ABL1 9 132,603,386 2021 ABL1 9 132,607,062 2022 ABL1 9 132,610,819 2023 ABL1 9 132,611,325 2024 ABL1 9 132,611,594 2025 ABL1 9 132,613,270 2026 ABL1 9 132,625,367 2027 ABL1 9 132,690,607 2028 TSC1 9 134,739,894 2029 TSC1 9 134,765,855 2030 TSC1 9 134,773,990 2031 TSC1 9 134,802,822 2032 VAV2 9 135,614,363 2033 VAV2 9 135,655,129 2034 VAV2 9 135,722,588 2035 VAV2 9 135,725,041 2036 VAV2 9 135,726,939 2037 VAV2 9 135,737,060 2038 KCNT1 9 137,739,699 2039 INPP5E 9 138,461,433 2040 NOTCH1 9 138,521,325 2041 NOTCH1 9 138,546,887 2042 CACNA1B 9 140,019,421 2043 CACNA1B 9 140,019,503 2044 CACNA1B 9 140,031,491 2045 CACNA1B 9 140,040,905 2046 CACNA1B 9 140,106,414 2047 CACNA1B 9 140,131,345 2048 PITRM1 10 3,163,364 2049 PITRM1 10 3,173,747 2050 PRKCQ 10 7,132,955 2051 CACNB2 10 18,589,647 2052 CACNB2 10 18,751,294 2053 CACNB2 10 18,819,330 2054 CACNB2 10 18,829,273 2055 CACNB2 10 18,830,509 2056 CACNB2 10 18,830,733 2057 CACNB2 10 18,838,209 2058 CACNB2 10 18,839,230 2059 CACNB2 10 18,839,896 2060 CACNB2 10 18,847,063 2061 CACNB2 10 18,861,080 2062 CACNB2 10 18,862,348 2063 ARMC3 10 23,233,970 2064 ARMC3 10 23,277,574 2065 ARMC3 10 23,314,154 2066 MYO3A 10 26,222,334 2067 MYO3A 10 26,256,474 2068 MYO3A 10 26,352,830 2069 MYO3A 10 26,353,343 2070 MYO3A 10 26,383,203 2071 MYO3A 10 26,385,264 2072 MYO3A 10 26,419,059 2073 MYO3A 10 26,447,414 2074 MYO3A 10 26,493,174 2075 MYO3A 10 26,504,528 2076 SLC18A3 10 50,438,238 2077 SLC18A3 10 50,491,249 2078 PRKG1 10 52,459,361 2079 PRKG1 10 52,577,528 2080 PRKG1 10 52,585,849 2081 PRKG1 10 52,585,942 2082 PRKG1 10 52,586,179 2083 PRKG1 10 52,619,168 2084 PRKG1 10 52,869,416 2085 PRKG1 10 52,901,690 2086 PRKG1 10 52,904,054 2087 PRKG1 10 53,550,571 2088 PRKG1 10 53,562,357 2089 PCDH15 10 55,284,858 2090 PCDH15 10 55,334,011 2091 PCDH15 10 55,468,894 2092 PCDH15 10 55,502,506 2093 PCDH15 10 55,631,926 2094 PCDH15 10 55,633,952 2095 PCDH15 10 55,635,312 2096 PCDH15 10 55,636,727 2097 PCDH15 10 55,639,211 2098 PCDH15 10 55,639,890 2099 PCDH15 10 55,639,938 2100 PCDH15 10 55,709,225 2101 PCDH15 10 55,743,087 2102 PCDH15 10 55,746,766 2103 PCDH15 10 55,759,269 2104 PCDH15 10 55,806,859 2105 PCDH15 10 55,817,364 2106 PCDH15 10 56,237,672 2107 PCDH15 10 56,285,230 2108 PCDH15 10 56,287,963 2109 PCDH15 10 56,288,058 2110 PCDH15 10 56,873,024 2111 PCDH15 10 56,960,734 2112 PCDH15 10 57,003,485 2113 PCDH15 10 57,005,770 2114 ANK3 10 61,466,096 2115 ANK3 10 61,490,495 2116 ANK3 10 61,569,339 2117 ANK3 10 61,585,961 2118 ANK3 10 61,594,867 2119 ANK3 10 61,740,656 2120 ANK3 10 61,746,842 2121 JMJD1C 10 64,618,690 2122 JMJD1C 10 64,732,014 2123 JMJD1C 10 64,736,192 2124 JMJD1C 10 64,761,165 2125 JMJD1C 10 64,771,213 2126 JMJD1C 10 64,778,162 2127 CTNNA3 10 67,462,579 2128 CTNNA3 10 67,487,829 2129 CTNNA3 10 67,515,886 2130 CTNNA3 10 67,516,561 2131 CTNNA3 10 67,564,825 2132 CTNNA3 10 67,577,247 2133 CTNNA3 10 67,595,330 2134 CTNNA3 10 67,634,469 2135 CTNNA3 10 67,637,097 2136 CTNNA3 10 67,695,250 2137 CTNNA3 10 67,698,152 2138 CTNNA3 10 67,713,848 2139 CTNNA3 10 67,725,533 2140 CTNNA3 10 68,131,872 2141 CTNNA3 10 68,283,754 2142 CTNNA3 10 68,283,801 2143 CTNNA3 10 68,285,636 2144 CTNNA3 10 68,506,311 2145 CTNNA3 10 68,600,561 2146 CTNNA3 10 68,609,647 2147 CTNNA3 10 68,611,041 2148 CTNNA3 10 68,617,000 2149 CTNNA3 10 68,622,864 2150 CTNNA3 10 68,626,505 2151 CTNNA3 10 68,628,119 2152 CTNNA3 10 68,628,572 2153 CTNNA3 10 68,631,498 2154 CTNNA3 10 68,742,873 2155 CTNNA3 10 68,750,082 2156 CTNNA3 10 69,048,122 2157 CTNNA3 10 69,088,276 2158 CTNNA3 10 69,106,914 2159 CTNNA3 10 69,118,295 2160 CTNNA3 10 69,123,347 2161 CTNNA3 10 69,163,784 2162 CTNNA3 10 69,193,368 2163 CDH23 10 73,076,605 2164 KCNMA1 10 78,232,825 2165 KCNMA1 10 78,258,751 2166 KCNMA1 10 78,259,743 2167 KCNMA1 10 78,286,204 2168 KCNMA1 10 78,297,136 2169 KCNMA1 10 78,299,801 2170 KCNMA1 10 78,300,503 2171 KCNMA1 10 78,358,158 2172 KCNMA1 10 78,372,877 2173 KCNMA1 10 78,426,444 2174 KCNMA1 10 78,426,609 2175 KCNMA1 10 78,446,565 2176 KCNMA1 10 78,447,710 2177 KCNMA1 10 78,587,494 2178 KCNMA1 10 78,598,169 2179 KCNMA1 10 78,865,698 2180 KCNMA1 10 78,865,774 2181 KCNMA1 10 78,872,456 2182 KCNMA1 10 79,086,473 2183 NRG3 10 83,532,551 2184 NRG3 10 83,626,423 2185 NRG3 10 84,141,992 2186 NRG3 10 84,195,058 2187 NRG3 10 84,604,364 2188 NRG3 10 84,616,939 2189 SORBS1 10 97,061,998 2190 SORBS1 10 97,097,088 2191 SORBS1 10 97,111,958 2192 SORBS1 10 97,112,231 2193 SORBS1 10 97,136,438 2194 SORBS1 10 97,214,150 2195 SORBS1 10 97,313,525 2196 PIK3AP1 10 98,343,203 2197 PIK3AP1 10 98,361,738 2198 PIK3AP1 10 98,368,240 2199 PIK3AP1 10 98,370,534 2200 PIK3AP1 10 98,468,439 2201 SLIT1 10 98,840,790 2202 SLIT1 10 98,868,371 2203 SLIT1 10 98,923,843 2204 SLIT1 10 98,956,872 2205 SLIT1 10 98,961,015 2206 SORCS3 10 106,355,057 2207 SORCS3 10 106,371,034 2208 SORCS3 10 106,511,862 2209 SORCS3 10 106,518,456 2210 SORCS3 10 106,543,829 2211 SORCS3 10 106,546,794 2212 SORCS3 10 106,586,272 2213 SORCS3 10 106,618,988 2214 SORCS3 10 106,622,111 2215 SORCS3 10 106,703,623 2216 SORCS3 10 106,934,094 2217 SORCS3 10 107,025,958 2218 VTI1A 10 114,226,855 2219 VTI1A 10 114,228,361 2220 ATRNL1 10 116,937,138 2221 ATRNL1 10 117,018,254 2222 ATRNL1 10 117,193,379 2223 ATRNL1 10 117,251,493 2224 ATRNL1 10 117,257,300 2225 ATRNL1 10 117,261,885 2226 ATRNL1 10 117,267,663 2227 ATRNL1 10 117,280,076 2228 ATRNL1 10 117,301,088 2229 ATRNL1 10 117,305,474 2230 ATRNL1 10 117,329,513 2231 ATRNL1 10 117,341,209 2232 ATRNL1 10 117,341,891 2233 ATRNL1 10 117,342,514 2234 ATRNL1 10 117,348,909 2235 ATRNL1 10 117,348,932 2236 ATRNL1 10 117,350,294 2237 ATRNL1 10 117,352,824 2238 ATRNL1 10 117,385,627 2239 ATRNL1 10 117,404,353 2240 ATRNL1 10 117,628,480 2241 HSPA12A 10 118,434,753 2242 HSPA12A 10 118,437,365 2243 HSPA12A 10 118,438,068 2244 NANOS1 10 120,811,615 2245 GRK5 10 121,222,444 2246 ATE1 10 123,421,505 2247 ATE1 10 123,426,686 2248 ATE1 10 123,427,197 2249 ATE1 10 123,427,443 2250 ATE1 10 123,428,103 2251 ATE1 10 123,432,831 2252 ATE1 10 123,453,723 2253 ATE1 10 123,484,634 2254 ATE1 10 123,573,965 2255 ATE1 10 123,614,295 2256 ATE1 10 123,615,180 2257 ATE1 10 123,627,690 2258 ATE1 10 123,630,511 2259 ATE1 10 123,634,335 2260 ATE1 10 123,648,119 2261 ATE1 10 123,659,245 2262 ATE1 10 123,666,737 2263 ATE1 10 123,669,674 2264 EBF3 10 131,490,856 2265 EBF3 10 131,645,661 2266 EBF3 10 131,740,881 2267 DEAF1 11 723,609 2268 CEND1 11 762,982 2269 CEND1 11 830,034 2270 HCCA2 11 1,451,351 2271 HCCA2 11 1,455,660 2272 HCCA2 11 1,476,557 2273 HCCA2 11 1,489,585 2274 DUSP8 11 1,494,093 2275 DUSP8 11 1,501,758 2276 DUSP8 11 1,501,827 2277 DUSP8 11 1,563,922 2278 STIM1 11 3,931,164 2279 TRIM21 11 4,352,761 2280 TRIM21 11 4,365,143 2281 GALNTL4 11 11,215,705 2282 GALNTL4 11 11,219,194 2283 GALNTL4 11 11,310,922 2284 GALNTL4 11 11,591,325 2285 GALNTL4 11 11,611,548 2286 MICAL2 11 12,148,237 2287 MICAL2 11 12,165,670 2288 MICAL2 11 12,172,022 2289 MICAL2 11 12,179,624 2290 MICAL2 11 12,187,248 2291 SPON1 11 13,978,590 2292 SPON1 11 13,991,391 2293 SPON1 11 13,992,156 2294 SPON1 11 13,992,537 2295 SPON1 11 13,994,054 2296 SPON1 11 13,995,954 2297 SPON1 11 14,004,879 2298 SPON1 11 14,005,230 2299 SPON1 11 14,005,260 2300 SPON1 11 14,005,745 2301 SPON1 11 14,008,775 2302 SPON1 11 14,014,762 2303 SPON1 11 14,014,854 2304 SPON1 11 14,031,836 2305 SPON1 11 14,039,110 2306 SPON1 11 14,043,034 2307 SPON1 11 14,070,335 2308 SPON1 11 14,075,677 2309 SPON1 11 14,213,020 2310 SPON1 11 14,215,231 2311 SPON1 11 14,221,555 2312 SPON1 11 14,233,507 2313 SPON1 11 14,248,953 2314 USH1C 11 17,470,828 2315 USH1C 11 17,472,244 2316 USH1C 11 17,475,101 2317 USH1C 11 17,499,779 2318 OTOG 11 17,615,741 2319 SERGEF 11 17,761,574 2320 SERGEF 11 17,767,536 2321 SERGEF 11 17,772,558 2322 IGSF22 11 18,643,492 2323 IGSF22 11 18,646,229 2324 IGSF22 11 18,646,965 2325 IGSF22 11 18,689,422 2326 PTPN5 11 18,732,258 2327 PTPN5 11 18,732,276 2328 PTPN5 11 18,732,907 2329 PTPN5 11 18,761,510 2330 NAV2 11 19,700,849 2331 NAV2 11 19,707,031 2332 NAV2 11 19,707,122 2333 NAV2 11 19,713,624 2334 NAV2 11 19,724,190 2335 NAV2 11 19,727,563 2336 NAV2 11 19,732,967 2337 NAV2 11 19,733,236 2338 NAV2 11 19,743,216 2339 NAV2 11 19,916,723 2340 NAV2 11 20,071,925 2341 NAV2 11 20,077,485 2342 NAV2 11 20,077,810 2343 NAV2 11 20,078,033 2344 NAV2 11 20,078,168 2345 SLC6A5 11 20,579,618 2346 SLC6A5 11 20,597,598 2347 SLC6A5 11 20,598,252 2348 SLC6A5 11 20,599,698 2349 SLC6A5 11 20,599,788 2350 SLC6A5 11 20,601,656 2351 SLC6A5 11 20,609,196 2352 NELL1 11 20,763,894 2353 KCNA4 11 29,964,590 2354 KCNA4 11 29,983,650 2355 KCNA4 11 29,984,859 2356 KCNA4 11 29,987,012 2357 LRRC4C 11 40,094,119 2358 LRRC4C 11 40,098,953 2359 LRRC4C 11 40,131,206 2360 LRRC4C 11 40,149,430 2361 LRRC4C 11 40,149,688 2362 LRRC4C 11 40,194,755 2363 LRRC4C 11 40,198,084 2364 LRRC4C 11 40,209,366 2365 LRRC4C 11 40,211,317 2366 LRRC4C 11 40,212,327 2367 LRRC4C 11 40,216,303 2368 LRRC4C 11 40,216,724 2369 LRRC4C 11 40,217,071 2370 LRRC4C 11 40,229,850 2371 LRRC4C 11 40,231,418 2372 LRRC4C 11 40,231,636 2373 LRRC4C 11 40,262,733 2374 LRRC4C 11 40,306,179 2375 LRRC4C 11 40,359,450 2376 PHACS 11 44,050,194 2377 PHACS 11 44,050,992 2378 PHACS 11 44,057,118 2379 PHACS 11 44,057,694 2380 PHACS 11 44,058,383 2381 PHACS 11 44,062,444 2382 PHACS 11 44,067,266 2383 SYT13 11 45,220,853 2384 SYT13 11 45,226,820 2385 SYT13 11 45,233,558 2386 SYT13 11 45,234,779 2387 SYT13 11 45,234,893 2388 SYT13 11 45,242,661 2389 SYT13 11 45,254,175 2390 CTNND1 11 57,237,199 2391 CTNND1 11 57,257,758 2392 CTNND1 11 57,312,346 2393 CTNND1 11 57,350,416 2394 CTNND1 11 57,353,641 2395 CTNND1 11 57,353,850 2396 CTNND1 11 57,380,391 2397 DLG2 11 82,852,684 2398 DLG2 11 82,866,094 2399 DLG2 11 82,881,713 2400 DLG2 11 82,882,102 2401 DLG2 11 82,910,180 2402 DLG2 11 82,913,481 2403 DLG2 11 82,935,775 2404 DLG2 11 82,970,299 2405 DLG2 11 82,982,760 2406 DLG2 11 83,004,627 2407 DLG2 11 83,018,046 2408 DLG2 11 83,018,663 2409 DLG2 11 83,018,964 2410 DLG2 11 83,036,277 2411 DLG2 11 83,065,789 2412 DLG2 11 83,083,527 2413 DLG2 11 83,086,000 2414 DLG2 11 83,086,089 2415 DLG2 11 83,098,203 2416 DLG2 11 83,099,929 2417 DLG2 11 83,120,827 2418 DLG2 11 84,210,011 2419 DLG2 11 84,254,292 2420 DLG2 11 84,307,983 2421 ELMOD1 11 107,036,969 2422 OPCML 11 131,716,323 2423 OPCML 11 131,904,482 2424 OPCML 11 132,032,722 2425 OPCML 11 132,037,815 2426 OPCML 11 132,624,713 2427 OPCML 11 132,795,217 2428 OPCML 11 132,905,489 2429 OPCML 11 133,105,149 2430 WNT5B 12 1,610,432 2431 WNT5B 12 1,611,877 2432 TSPAN9 12 3,053,288 2433 TSPAN9 12 3,173,346 2434 TSPAN9 12 3,257,542 2435 TSPAN9 12 3,258,265 2436 TMEM16B 12 5,755,581 2437 TMEM16B 12 5,760,697 2438 TMEM16B 12 5,776,400 2439 TMEM16B 12 5,781,725 2440 TMEM16B 12 5,786,611 2441 TMEM16B 12 5,793,628 2442 TMEM16B 12 5,794,409 2443 STYK1 12 10,676,279 2444 STYK1 12 10,696,179 2445 STYK1 12 10,697,552 2446 STYK1 12 10,697,609 2447 STYK1 12 10,697,767 2448 STYK1 12 10,711,189 2449 LOC729025 12 16,235,442 2450 LOC729025 12 16,236,620 2451 LOC729025 12 16,237,633 2452 LOC729025 12 16,237,876 2453 LOC729025 12 16,288,678 2454 LOC729025 12 16,297,957 2455 LOC729025 12 16,298,403 2456 LOC729025 12 16,302,981 2457 LOC729025 12 16,310,672 2458 PIK3C2G 12 18,212,721 2459 PIK3C2G 12 18,349,706 2460 PIK3C2G 12 18,356,504 2461 PIK3C2G 12 18,393,150 2462 PIK3C2G 12 18,459,343 2463 PIK3C2G 12 18,506,439 2464 PIK3C2G 12 18,701,315 2465 ITPR2 12 26,335,364 2466 ITPR2 12 26,379,772 2467 ITPR2 12 26,383,105 2468 ITPR2 12 26,476,845 2469 ITPR2 12 26,621,910 2470 ITPR2 12 26,641,098 2471 ITPR2 12 26,650,941 2472 LRP1 12 55,844,772 2473 LRP1 12 55,847,718 2474 LRP1 12 55,878,824 2475 LRP1 12 55,909,088 2476 CNOT2 12 68,893,334 2477 CNOT2 12 68,954,824 2478 KCNC2 12 73,597,214 2479 KCNC2 12 73,597,675 2480 KCNC2 12 73,855,015 2481 NAV3 12 77,041,541 2482 NAV3 12 77,042,099 2483 NAV3 12 77,070,387 2484 GAS2L3 12 99,494,084 2485 GAS2L3 12 99,494,793 2486 GAS2L3 12 99,495,794 2487 CHST11 12 103,575,899 2488 CHST11 12 103,669,570 2489 CHST11 12 103,676,521 2490 CHST11 12 103,681,081 2491 CHST11 12 103,685,709 2492 CHST11 12 103,685,984 2493 CHST11 12 103,692,809 2494 CHST11 12 103,696,050 2495 CHST11 12 103,702,696 2496 CHST11 12 103,704,275 2497 KIAA1853 12 118,035,761 2498 KIAA1853 12 118,052,804 2499 KIAA1853 12 118,053,104 2500 KIAA1853 12 118,054,044 2501 KIAA1853 12 118,054,167 2502 KIAA1853 12 118,054,447 2503 PLA2G1B 12 119,247,148 2504 RIMBP2 12 129,432,804 2505 RIMBP2 12 129,433,601 2506 RIMBP2 12 129,529,219 2507 STX2 12 129,846,370 2508 STX2 12 129,854,397 2509 STX2 12 129,879,750 2510 STX2 12 129,885,052 2511 KIAA1545 12 131,667,713 2512 KIAA1545 12 131,671,419 2513 MTIF3 13 26,909,686 2514 MTIF3 13 26,939,055 2515 MTIF3 13 26,979,535 2516 UBL3 13 29,235,331 2517 N4BP2L2 13 31,897,951 2518 N4BP2L2 13 31,934,759 2519 N4BP2L2 13 31,953,620 2520 NBEA 13 34,550,806 2521 NBEA 13 34,773,125 2522 NBEA 13 34,784,368 2523 NBEA 13 34,796,208 2524 NBEA 13 34,827,043 2525 NBEA 13 34,952,510 2526 NBEA 13 34,980,142 2527 NBEA 13 35,070,686 2528 TRPC4 13 37,108,100 2529 TRPC4 13 37,203,414 2530 TRPC4 13 37,212,640 2531 TRPC4 13 37,243,920 2532 TRPC4 13 37,282,014 2533 KPNA3 13 49,167,094 2534 KPNA3 13 49,231,388 2535 KPNA3 13 49,279,103 2536 KPNA3 13 49,341,559 2537 PCDH17 13 56,739,785 2538 PCDH17 13 57,113,143 2539 PCDH17 13 57,113,277 2540 PCDH17 13 57,124,943 2541 PCDH17 13 57,130,775 2542 PCDH20 13 60,868,943 2543 PCDH20 13 60,932,538 2544 PCDH20 13 60,964,632 2545 LMO7 13 75,283,739 2546 LMO7 13 75,308,726 2547 SLAIN1 13 77,123,666 2548 SLAIN1 13 77,130,842 2549 SLAIN1 13 77,131,233 2550 SLAIN1 13 77,159,020 2551 SLAIN1 13 77,192,498 2552 SLAIN1 13 77,192,550 2553 SLAIN1 13 77,232,218 2554 GPC5 13 90,781,911 2555 GPC5 13 90,792,026 2556 GPC5 13 90,811,414 2557 GPC5 13 90,811,945 2558 GPC5 13 90,813,978 2559 GPC5 13 90,817,618 2560 GPC5 13 90,818,043 2561 GPC5 13 92,100,968 2562 GPC5 13 92,117,688 2563 GPC5 13 92,117,738 2564 GPC5 13 92,121,147 2565 GPC5 13 92,121,270 2566 GPC6 13 92,948,013 2567 GPC6 13 93,081,095 2568 GPC6 13 93,115,588 2569 GPC6 13 93,183,430 2570 GPC6 13 93,185,878 2571 GPC6 13 93,196,895 2572 GPC6 13 93,196,981 2573 GPC6 13 93,197,927 2574 GPC6 13 93,235,757 2575 GPC6 13 93,235,896 2576 GPC6 13 93,243,178 2577 GPC6 13 93,243,273 2578 GPC6 13 93,244,881 2579 GPC6 13 93,249,369 2580 GPC6 13 93,253,982 2581 GPC6 13 93,254,425 2582 GPC6 13 93,254,940 2583 GPC6 13 93,259,422 2584 GPC6 13 93,288,101 2585 GPC6 13 93,289,027 2586 GPC6 13 93,317,951 2587 GPC6 13 93,340,807 2588 GPC6 13 93,341,695 2589 GPC6 13 93,863,160 2590 NALCN 13 100,499,428 2591 NALCN 13 100,499,748 2592 NALCN 13 100,502,077 2593 NALCN 13 100,507,599 2594 NALCN 13 100,510,427 2595 NALCN 13 100,511,470 2596 NALCN 13 100,518,301 2597 NALCN 13 100,524,314 2598 NALCN 13 100,524,587 2599 NALCN 13 100,530,564 2600 NALCN 13 100,535,000 2601 NALCN 13 100,595,841 2602 NALCN 13 100,742,753 2603 ITGBL1 13 100,956,004 2604 ITGBL1 13 100,973,881 2605 ITGBL1 13 100,973,899 2606 ITGBL1 13 101,140,742 2607 ITGBL1 13 101,146,706 2608 ITGBL1 13 101,163,997 2609 ITGBL1 13 101,164,826 2610 ITGBL1 13 101,165,404 2611 ITGBL1 13 101,165,489 2612 FGF14 13 101,224,288 2613 FGF14 13 101,249,030 2614 FGF14 13 101,881,550 2615 TTC5 14 19,786,681 2616 TTC5 14 19,826,727 2617 TTC5 14 19,827,644 2618 TTC5 14 19,833,934 2619 TTC5 14 19,834,425 2620 TTC5 14 19,837,458 2621 TTC5 14 19,839,876 2622 TTC5 14 19,845,685 2623 TEP1 14 19,921,869 2624 TEP1 14 19,922,610 2625 TEP1 14 19,922,657 2626 TEP1 14 19,945,109 2627 WDR23 14 23,664,573 2628 NOVA1 14 25,943,292 2629 NOVA1 14 26,098,029 2630 NOVA1 14 26,159,322 2631 SLC25A21 14 36,224,345 2632 SLC25A21 14 36,352,544 2633 SLC25A21 14 36,558,361 2634 SLC25A21 14 36,619,169 2635 SLC25A21 14 36,727,597 2636 GNG2 14 51,393,655 2637 GNG2 14 51,394,658 2638 GNG2 14 51,395,147 2639 GNG2 14 51,406,432 2640 GNG2 14 51,419,524 2641 GNG2 14 51,422,662 2642 GNG2 14 51,422,700 2643 GNG2 14 51,428,644 2644 GNG2 14 51,480,711 2645 GNG2 14 51,480,818 2646 GNG2 14 51,486,162 2647 GNG2 14 51,520,930 2648 SAMD4A 14 54,092,204 2649 SAMD4A 14 54,169,379 2650 SAMD4A 14 54,327,340 2651 DAAM1 14 58,765,383 2652 DAAM1 14 58,768,753 2653 DAAM1 14 58,874,752 2654 DAAM1 14 58,883,684 2655 DAAM1 14 58,899,726 2656 GPR135 14 58,952,891 2657 GPR135 14 58,954,960 2658 GPR135 14 58,961,544 2659 GPR135 14 58,963,400 2660 GPR135 14 58,997,129 2661 PPP2R5E 14 62,856,367 2662 PPP2R5E 14 62,856,493 2663 PPP2R5E 14 63,040,607 2664 PPP2R5E 14 63,044,719 2665 PPP2R5E 14 63,050,455 2666 PPP2R5E 14 63,050,484 2667 PPP2R5E 14 63,060,864 2668 PPP2R5E 14 63,078,186 2669 PPP2R5E 14 63,099,534 2670 PPP2R5E 14 63,125,605 2671 RGS6 14 71,433,141 2672 RGS6 14 71,436,529 2673 RGS6 14 71,727,478 2674 RGS6 14 71,785,834 2675 RGS6 14 71,789,406 2676 RGS6 14 71,792,071 2677 RGS6 14 71,793,717 2678 RGS6 14 71,796,649 2679 RGS6 14 71,801,725 2680 RGS6 14 71,889,437 2681 RGS6 14 71,979,491 2682 RGS6 14 71,990,360 2683 RGS6 14 72,012,929 2684 RGS6 14 72,024,776 2685 RGS6 14 72,124,860 2686 KCNK10 14 87,843,799 2687 KCNK10 14 87,844,293 2688 KCNK10 14 87,869,850 2689 KCNK10 14 87,874,319 2690 KCNK10 14 87,874,519 2691 KCNK10 14 87,877,121 2692 KCNK10 14 87,878,632 2693 KCNK10 14 87,881,781 2694 KCNK10 14 87,887,777 2695 KCNK13 14 89,678,960 2696 KCNK13 14 89,686,350 2697 KCNK13 14 89,697,368 2698 RPS6KA5 14 90,544,201 2699 RPS6KA5 14 90,576,018 2700 CCDC88C 14 90,843,321 2701 CCDC88C 14 90,862,073 2702 CCDC88C 14 90,914,886 2703 CCDC88C 14 90,916,433 2704 CCDC88C 14 90,918,598 2705 CCDC88C 14 90,919,949 2706 CCDC88C 14 90,920,049 2707 CCDC88C 14 90,926,910 2708 CCDC88C 14 90,944,709 2709 CCDC88C 14 90,960,430 2710 ATXN3 14 91,626,364 2711 ATP10A 15 23,496,768 2712 ATP10A 15 23,504,291 2713 ATP10A 15 23,505,611 2714 ATP10A 15 23,507,697 2715 ATP10A 15 23,513,151 2716 ATP10A 15 23,653,372 2717 ATP10A 15 23,829,032 2718 RYR3 15 31,507,942 2719 RYR3 15 31,533,192 2720 RYR3 15 31,534,443 2721 RYR3 15 31,536,045 2722 RYR3 15 31,542,264 2723 RYR3 15 31,542,373 2724 RYR3 15 31,545,132 2725 RYR3 15 31,550,764 2726 RYR3 15 31,557,413 2727 RYR3 15 31,564,997 2728 RYR3 15 31,566,783 2729 RYR3 15 31,567,171 2730 RYR3 15 31,623,922 2731 RYR3 15 31,646,227 2732 RYR3 15 31,744,674 2733 RYR3 15 31,803,566 2734 RYR3 15 31,921,882 2735 C15ORF41 15 34,771,254 2736 C15ORF41 15 34,847,872 2737 C15ORF41 15 34,859,591 2738 C15ORF41 15 34,862,071 2739 C15ORF41 15 34,863,762 2740 C15ORF41 15 34,863,820 2741 C15ORF41 15 34,864,057 2742 MEIS2 15 34,955,596 2743 MEIS2 15 35,081,084 2744 MEIS2 15 35,086,366 2745 MEIS2 15 35,091,425 2746 RASGRP1 15 36,656,958 2747 KIAA1370 15 50,614,631 2748 KIAA1370 15 50,617,081 2749 UNC13C 15 52,127,362 2750 UNC13C 15 52,127,720 2751 UNC13C 15 52,134,616 2752 UNC13C 15 52,176,418 2753 UNC13C 15 52,178,602 2754 UNC13C 15 52,179,635 2755 UNC13C 15 52,182,570 2756 UNC13C 15 52,222,738 2757 UNC13C 15 52,224,076 2758 UNC13C 15 52,243,049 2759 UNC13C 15 52,337,529 2760 UNC13C 15 52,337,770 2761 UNC13C 15 52,338,559 2762 UNC13C 15 52,357,520 2763 UNC13C 15 52,357,746 2764 UNC13C 15 52,465,606 2765 UNC13C 15 52,658,396 2766 UNC13C 15 52,682,121 2767 UNC13C 15 52,708,142 2768 NEDD4 15 53,987,004 2769 CGNL1 15 55,460,127 2770 CGNL1 15 55,460,219 2771 CGNL1 15 55,501,043 2772 GRINL1A 15 55,689,523 2773 GRINL1A 15 55,692,212 2774 GRINL1A 15 55,705,948 2775 GRINL1A 15 55,713,128 2776 GRINL1A 15 55,718,309 2777 ADAM10 15 56,701,618 2778 ADAM10 15 56,708,490 2779 ADAM10 15 56,810,507 2780 ADAM10 15 56,829,655 2781 CLK3 15 72,702,941 2782 TBC1D2B 15 75,940,905 2783 TBC1D2B 15 76,083,890 2784 TBC1D2B 15 76,098,398 2785 ARNT2 15 78,583,183 2786 ARNT2 15 78,673,568 2787 ARNT2 15 78,674,561 2788 ARNT2 15 78,694,359 2789 AKAP13 15 83,807,339 2790 AKAP13 15 83,811,108 2791 AKAP13 15 83,840,475 2792 AKAP13 15 83,841,141 2793 AKAP13 15 83,841,398 2794 AKAP13 15 83,847,837 2795 AKAP13 15 83,848,290 2796 AKAP13 15 83,851,894 2797 AKAP13 15 83,857,466 2798 AKAP13 15 83,864,137 2799 AKAP13 15 83,865,972 2800 AKAP13 15 83,870,122 2801 AKAP13 15 83,871,692 2802 AKAP13 15 83,880,838 2803 AKAP13 15 83,921,005 2804 AKAP13 15 83,929,645 2805 AKAP13 15 83,941,483 2806 AKAP13 15 83,961,445 2807 AKAP13 15 84,001,703 2808 AKAP13 15 84,017,421 2809 AKAP13 15 84,019,771 2810 AKAP13 15 84,025,574 2811 AKAP13 15 84,034,013 2812 AKAP13 15 84,052,538 2813 AKAP13 15 84,052,594 2814 AKAP13 15 84,060,543 2815 AKAP13 15 84,061,704 2816 SV2B 15 89,609,732 2817 SLCO3A1 15 90,284,500 2818 SLCO3A1 15 90,441,591 2819 SLCO3A1 15 90,464,205 2820 SLCO3A1 15 90,499,647 2821 ST8SIA2 15 90,747,330 2822 RGMA 15 91,386,979 2823 IGF1R 15 97,045,310 2824 IGF1R 15 97,046,853 2825 IGF1R 15 97,049,391 2826 A2BP1 16 6,249,617 2827 A2BP1 16 6,251,202 2828 A2BP1 16 6,253,029 2829 A2BP1 16 6,657,066 2830 A2BP1 16 6,688,743 2831 A2BP1 16 7,419,133 2832 A2BP1 16 7,628,696 2833 A2BP1 16 7,629,108 2834 A2BP1 16 7,630,524 2835 A2BP1 16 7,632,187 2836 A2BP1 16 7,706,480 2837 TMC5 16 19,254,444 2838 TMC5 16 19,378,267 2839 N4BP1 16 47,114,074 2840 N4BP1 16 47,129,091 2841 GOT2 16 57,298,868 2842 GOT2 16 57,300,955 2843 GOT2 16 57,314,899 2844 GOT2 16 57,317,440 2845 GOT2 16 57,318,951 2846 GOT2 16 57,319,081 2847 GOT2 16 57,319,812 2848 GOT2 16 57,360,362 2849 GOT2 16 57,361,735 2850 GOT2 16 57,361,866 2851 GOT2 16 57,362,682 2852 GOT2 16 57,394,412 2853 GOT2 16 57,421,815 2854 WWOX 16 76,669,764 2855 WWOX 16 76,671,254 2856 WWOX 16 76,673,175 2857 WWOX 16 76,674,781 2858 PLCG2 16 80,579,047 2859 MPHOSPH6 16 80,702,549 2860 MPHOSPH6 16 80,726,886 2861 MPHOSPH6 16 80,728,226 2862 MPHOSPH6 16 80,743,884 2863 MPHOSPH6 16 80,757,604 2864 MPHOSPH6 16 80,763,959 2865 MPHOSPH6 16 80,765,783 2866 MPHOSPH6 16 80,765,856 2867 MPHOSPH6 16 80,820,057 2868 CDH13 16 81,812,818 2869 CDH13 16 81,896,946 2870 CDH13 16 81,904,078 2871 CDH13 16 81,905,756 2872 CDH13 16 81,917,154 2873 CDH13 16 82,328,997 2874 CDH13 16 82,331,866 2875 KIAA0182 16 84,248,252 2876 KIAA0182 16 84,260,191 2877 KIAA0182 16 84,263,548 2878 KIAA0182 16 84,264,134 2879 KIAA0182 16 84,269,361 2880 GAS7 17 9,747,805 2881 DNAH9 17 11,408,733 2882 DNAH9 17 11,776,046 2883 DNAH9 17 11,806,187 2884 RAB11FIP4 17 26,867,375 2885 RAB11FIP4 17 27,004,572 2886 RAB11FIP4 17 27,005,299 2887 CA10 17 47,587,715 2888 CA10 17 47,983,984 2889 CA10 17 48,008,209 2890 CA10 17 48,026,031 2891 CA10 17 48,122,155 2892 CA10 17 48,154,827 2893 MSI2 17 53,002,826 2894 MSI2 17 53,007,065 2895 SDK2 17 68,953,741 2896 SDK2 17 68,954,425 2897 DNAH17 17 73,954,236 2898 DNAH17 17 74,016,132 2899 DNAH17 17 74,017,503 2900 HRNBP3 17 75,313,177 2901 HRNBP3 17 75,313,214 2902 DLGAP1 18 3,603,827 2903 DLGAP1 18 3,605,943 2904 ZFP161 18 5,237,432 2905 ZFP161 18 5,240,346 2906 ZFP161 18 5,251,246 2907 ZFP161 18 5,280,198 2908 ZFP161 18 5,283,875 2909 ZFP161 18 5,283,943 2910 ZFP161 18 5,284,323 2911 PTPRM 18 7,978,643 2912 PTPRM 18 8,000,444 2913 PTPRM 18 8,012,573 2914 PTPRM 18 8,013,359 2915 PTPRM 18 8,021,623 2916 PTPRM 18 8,024,067 2917 PTPRM 18 8,040,886 2918 PTPRM 18 8,042,261 2919 PTPRM 18 8,059,868 2920 PTPRM 18 8,068,553 2921 PTPRM 18 8,070,357 2922 PTPRM 18 8,075,047 2923 PTPRM 18 8,086,608 2924 KIAA0802 18 8,832,312 2925 KIAA0802 18 8,833,160 2926 KIAA0802 18 8,839,087 2927 KIAA0802 18 8,840,062 2928 KIAA0802 18 8,844,132 2929 OSBPL1A 18 20,042,294 2930 OSBPL1A 18 20,076,380 2931 OSBPL1A 18 20,093,929 2932 CHST9 18 22,940,363 2933 CHST9 18 22,960,659 2934 CHST9 18 22,965,754 2935 CHST9 18 23,000,286 2936 CHST9 18 23,010,213 2937 CHST9 18 23,012,354 2938 CHST9 18 23,015,926 2939 FUSSEL18 18 43,092,404 2940 FUSSEL18 18 43,096,405 2941 FUSSEL18 18 43,105,881 2942 KIAA0427 18 44,356,926 2943 KIAA0427 18 44,410,788 2944 KIAA0427 18 44,488,963 2945 KIAA0427 18 44,489,439 2946 KIAA0427 18 44,494,468 2947 KIAA0427 18 44,494,709 2948 KIAA0427 18 44,495,161 2949 KIAA0427 18 44,594,841 2950 KIAA0427 18 44,622,539 2951 DCC 18 48,523,497 2952 DCC 18 48,581,071 2953 DCC 18 48,606,324 2954 DCC 18 48,607,209 2955 DCC 18 48,608,936 2956 DCC 18 48,609,120 2957 DCC 18 48,609,275 2958 DCC 18 48,609,314 2959 DCC 18 48,709,007 2960 DCC 18 48,872,357 2961 DCC 18 48,876,855 2962 DCC 18 48,877,638 2963 DCC 18 49,023,541 2964 DCC 18 49,067,285 2965 DCC 18 49,159,204 2966 DCC 18 49,159,355 2967 DCC 18 49,159,861 2968 DCC 18 49,160,029 2969 DCC 18 49,311,296 2970 NEDD4L 18 53,901,050 2971 NEDD4L 18 53,910,209 2972 NEDD4L 18 53,913,025 2973 NEDD4L 18 54,257,576 2974 CCBE1 18 55,266,769 2975 TXNDC10 18 64,472,145 2976 TXNDC10 18 64,477,750 2977 TXNDC10 18 64,478,795 2978 TXNDC10 18 64,483,488 2979 TXNDC10 18 64,509,383 2980 TXNDC10 18 64,531,445 2981 TXNDC10 18 64,536,945 2982 TXNDC10 18 64,644,387 2983 DOK6 18 65,007,777 2984 DOK6 18 65,239,042 2985 DOK6 18 65,284,947 2986 DOK6 18 65,290,269 2987 DOK6 18 65,297,738 2988 DOK6 18 65,312,795 2989 DOK6 18 65,312,915 2990 DOK6 18 65,323,078 2991 DOK6 18 65,324,331 2992 DOK6 18 65,413,042 2993 DOK6 18 65,421,361 2994 DOK6 18 65,437,247 2995 DOK6 18 65,637,817 2996 MBP 18 72,849,372 2997 MBP 18 72,851,555 2998 MBP 18 72,856,606 2999 MBP 18 73,014,458 3000 MBP 18 73,015,500 3001 LDLR 19 11,097,804 3002 ZNF667 19 61,676,582 3003 ZNF667 19 61,678,984 3004 ATRN 20 3,553,336 3005 RNF24 20 3,865,215 3006 RNF24 20 3,865,397 3007 RNF24 20 3,882,766 3008 RNF24 20 3,941,491 3009 PRNT 20 4,653,718 3010 PRNT 20 4,653,865 3011 PRNT 20 4,667,449 3012 PRNT 20 4,679,109 3013 PRNT 20 4,679,377 3014 FERMT1 20 5,998,478 3015 FERMT1 20 6,010,641 3016 FERMT1 20 6,025,907 3017 FERMT1 20 6,033,216 3018 FERMT1 20 6,037,513 3019 FERMT1 20 6,037,952 3020 PLCB1 20 8,062,704 3021 PLCB1 20 8,082,140 3022 PLCB1 20 8,092,135 3023 PLCB1 20 8,109,126 3024 PLCB1 20 8,198,182 3025 PLCB1 20 8,198,311 3026 PLCB1 20 8,318,230 3027 PLCB1 20 8,340,262 3028 PLCB4 20 9,114,332 3029 PLCB4 20 9,119,736 3030 PLCB4 20 9,129,662 3031 PLCB4 20 9,137,987 3032 PLCB4 20 9,142,973 3033 PLCB4 20 9,411,693 3034 PLCB4 20 9,418,063 3035 PLCB4 20 9,419,575 3036 JAG1 20 10,587,841 3037 JAG1 20 10,589,470 3038 JAG1 20 10,589,575 3039 MACROD2 20 14,254,953 3040 MACROD2 20 15,085,117 3041 MACROD2 20 15,413,513 3042 MACROD2 20 15,414,269 3043 MACROD2 20 15,424,726 3044 MACROD2 20 15,438,760 3045 MACROD2 20 15,443,389 3046 MACROD2 20 15,756,444 3047 MACROD2 20 15,775,930 3048 MACROD2 20 15,780,282 3049 MACROD2 20 15,951,406 3050 KIF16B 20 16,200,981 3051 KIF16B 20 16,418,749 3052 PTPRT 20 40,087,340 3053 PTPRT 20 40,173,455 3054 PTPRT 20 40,508,810 3055 PTPRT 20 40,510,165 3056 PTPRT 20 40,515,646 3057 PTPRT 20 40,714,518 3058 PTPRT 20 40,781,649 3059 KCNB1 20 47,550,362 3060 PTGIS 20 47,554,184 3061 PTGIS 20 47,563,113 3062 PTGIS 20 47,563,394 3063 PTGIS 20 47,563,735 3064 PTGIS 20 47,600,610 3065 BMP7 20 55,192,062 3066 BMP7 20 55,237,584 3067 BMP7 20 55,238,534 3068 BMP7 20 55,243,363 3069 BMP7 20 55,257,169 3070 BMP7 20 55,258,167 3071 GNAS 20 56,912,202 3072 GNAS 20 56,919,207 3073 CDH4 20 59,236,556 3074 CDH4 20 59,263,242 3075 CDH4 20 59,287,333 3076 CDH4 20 59,349,681 3077 CDH4 20 59,408,443 3078 CDH4 20 59,409,551 3079 CDH4 20 59,410,397 3080 CDH4 20 59,411,482 3081 CDH4 20 59,439,102 3082 CDH4 20 59,513,826 3083 CDH4 20 59,708,684 3084 CDH4 20 59,709,160 3085 CDH4 20 59,710,358 3086 CDH4 20 59,832,199 3087 CDH4 20 59,852,651 3088 CDH4 20 59,854,564 3089 CDH4 20 59,855,625 3090 NCAM2 21 20,820,603 3091 NCAM2 21 20,822,764 3092 NCAM2 21 20,823,179 3093 NCAM2 21 21,401,668 3094 NCAM2 21 21,485,064 3095 NCAM2 21 21,654,800 3096 NCAM2 21 21,654,816 3097 NCAM2 21 21,658,511 3098 NCAM2 21 21,664,277 3099 NCAM2 21 21,667,058 3100 NCAM2 21 21,670,625 3101 NCAM2 21 21,677,311 3102 NCAM2 21 21,686,082 3103 NCAM2 21 21,692,759 3104 NCAM2 21 21,706,609 3105 NCAM2 21 21,717,043 3106 NCAM2 21 21,722,038 3107 NCAM2 21 21,770,148 3108 NCAM2 21 21,772,362 3109 ERG 21 38,829,307 3110 PCP4 21 40,190,608 3111 PCP4 21 40,196,614 3112 PCP4 21 40,198,160 3113 SLC37A1 21 42,826,920 3114 SLC37A1 21 42,829,968 3115 SLC37A1 21 42,833,146 3116 SLC37A1 21 42,895,327 3117 PDE9A 21 42,977,018 3118 PDE9A 21 42,990,494 3119 PDE9A 21 43,064,200 3120 ARVCF 22 18,342,203 3121 ASPHD2 22 25,171,390 3122 ASPHD2 22 25,171,643 3123 HPS4 22 25,174,769 3124 TTLL1 22 41,800,470 3125 EFCAB6 22 42,373,315 3126 EFCAB6 22 42,397,103 3127 EFCAB6 22 42,417,370 3128 EFCAB6 22 42,454,850 3129 EFCAB6 22 42,521,911 3130 SULT4A1 22 42,542,231 3131 SULT4A1 22 42,551,476 3132 SULT4A1 22 42,570,832 3133 SULT4A1 22 42,580,796 3134 SULT4A1 22 42,581,963 3135 SULT4A1 22 42,582,522 3136 SULT4A1 22 42,603,569 3137 SULT4A1 22 42,603,783 3138 RIBC2 22 44,257,648 3139 RIBC2 22 44,258,667 3140 RIBC2 22 44,265,997 3141 RIBC2 22 44,271,097

Other Embodiments

It is to be understood that while the invention has been described in conjunction with the detailed description thereof, the foregoing description is intended to illustrate and not limit the scope of the invention, which is defined by the scope of the appended claims. Other aspects, advantages, and modifications are within the scope of the following claims. 

1. A method of determining relative risk of developing bipolar disorder (BD) versus schizophrenia (SZ) in a human subject, the method comprising: obtaining a sample comprising genomic DNA from the subject; determining the identity of an allele of a single nucleotide polymorphism (SNP) at rs2060147 in the Disks Large Homolog 2 (DLG2) gene in the sample; and identifying a subject who has a guanine (G) allele at rs2060147 as having an increased risk of developing BD instead of SZ, as compared to a subject lacking a G allele at rs2060147.
 2. The method of claim 1, wherein determining the identity of an allele at rs2060147 comprises: contacting the sample with a probe specific for an allele at rs2060147; and detecting the formation of complexes between the probe and the allele, wherein the formation of complexes between the probe and the allele indicates the presence of the allele in the sample.
 3. The method of claim 1, wherein determining the identity of an allele at rs2060147 comprises determining the identity of the nucleotide at position 31 of SEQ ID NO:
 2409. 4. The method of claim 1, wherein the subject is a patient having or suspected of having BD or SZ.
 5. The method of claim 1, wherein the subject has one or more risk factors associated with BD or SZ.
 6. The method of claim 5, wherein the risk factors associated with BD or SZ include one or more of: a relative afflicted with BD or SZ; and a genetically based phenotypic trait associated with risk for BD or SZ.
 7. The method of claim 1, wherein the subject has exhibited or exhibits symptoms of psychosis.
 8. The method claim 7, wherein the psychosis is associated with BD or SZ.
 9. The method of claim 1, further comprising selecting or excluding a subject for enrollment in a clinical trial based on the identity of the allele.
 10. The method of claim 1, further comprising stratifying a subject population for analysis of a clinical trial based on the identity of the allele in the subjects.
 11. The method of claim 1, further comprising confirming a diagnosis of SZ or BD using psychometric instruments.
 12. The method of claim 1, further comprising selecting a treatment for BD if the allele in the subject indicates that the subject has an increased risk of developing BD, or selecting a treatment for SZ if an allele in the subject indicates that the subject has an increased risk of developing SZ.
 13. The method of claim 12, further comprising administering the selected treatment to the subject.
 14. The method of claim 12, wherein the treatment is psychotherapy.
 15. The method of claim 1, further comprising recording the identity of the allele in a tangible medium.
 16. The method of claim 15, wherein the tangible medium comprises a computer-readable disk, a solid state memory device, or an optical storage device.
 17. The method of claim 1, comprising determining the identity of both alleles at rs2060147 in the sample, and identifying a subject who has two G alleles at rs2060147 as having an increased risk of developing BD instead of SZ, as compared to a subject having one G allele at rs2060147 or lacking a G allele at rs2060147.
 18. The method of claim 1, further comprising determining the identity of an additional SNP in the DLG2 gene in the sample.
 19. The method of claim 18, wherein the additional SNP in the DLG2 gene is selected from the group consisting of: rs1367980, rs4480567, rs983590, rs11233711, rs12225388, rs10898148, rs12222455, rs10898152, rs7950988, and rs1945309.
 20. The method of claim 19, further comprising one or more of: identifying a subject who has a G allele at rs2060147 and a G allele at rs1367980 as having an increased risk of developing BD instead of SZ, as compared to a subject lacking a G allele at rs2060147 and lacking a G allele at rs1367980; identifying a subject who has a G allele at rs2060147 and a cytosine (C) allele at rs4480567 as having an increased risk of developing BD instead of SZ, as compared to a subject lacking a G allele at rs2060147 and lacking a C at rs4480567; identifying a subject who has a G allele at rs2060147 and a thymine (T) allele at rs983590 as having an increased risk of developing BD instead of SZ, as compared to a subject lacking a G allele at rs2060147 and lacking a T at rs983590; identifying a subject who has a G allele at rs2060147 and a T allele at rs11233711 as having an increased risk of developing BD instead of SZ, as compared to a subject lacking a G allele at rs2060147 and lacking a T at rs11233711; identifying a subject who has a G allele at rs2060147 and an adenine (A) allele at rs12225388 as having an increased risk of developing BD instead of SZ, as compared to a subject lacking a G allele at rs2060147 and lacking an A allele at rs12225388; identifying a subject who has a G allele at rs2060147 and an A allele at rs10898148 as having an increased risk of developing BD instead of SZ, as compared to a subject lacking a G allele at rs2060147 and lacking an A allele at rs10898148; identifying a subject who has a G allele at rs2060147 and an A allele at rs12222455 as having an increased risk of developing BD instead of SZ, as compared to a subject lacking a G allele at rs2060147 and lacking an A allele at rs12222455; identifying a subject who has a G allele at rs2060147 and a C allele at rs10898152 as having an increased risk of developing BD instead of SZ, as compared to a subject lacking a G allele at rs2060147 and lacking a C allele at rs10898152; identifying a subject who has a G allele at rs2060147 and a T allele at rs7950988 as having an increased risk of developing BD instead of SZ, as compared to a subject lacking a G allele at rs2060147 and lacking a I allele at rs7950988; and identifying a subject who has a G allele at rs2060147 and an A allele at rs1945309 as having an increased risk of developing BD instead of SZ, as compared to a subject lacking a G allele at rs2060147 and lacking an A allele at rs1945309.
 21. The method of claim 19, wherein: determining the identity of an allele at rs1367980 comprises determining the identity of the nucleotide at position 31 of SEQ ID NO: 2407; determining the identity of an allele at rs4480567 comprises determining the identity of the nucleotide at position 31 of SEQ ID NO: 2408; determining the identity of an allele at rs983590 comprises determining the identity of the nucleotide at position 31 of SEQ ID NO: 2410; determining the identity of an allele at rs11233711 comprises determining the identity of the nucleotide at position 31 of SEQ ID NO: 2411; determining the identity of an allele at rs12225388 comprises determining the identity of the nucleotide at position 31 of SEQ ID NO: 2412; determining the identity of an allele at rs10898148 comprises determining the identity of the nucleotide at position 31 of SEQ ID NO: 2413; determining the identity of an allele at rs12222455 comprises determining the identity of the nucleotide at position 31 of SEQ ID NO: 2414; determining the identity of an allele at rs10898152 comprises determining the identity of the nucleotide at position 31 of SEQ ID NO: 2415; determining the identity of an allele at rs7950988 comprises determining the identity of the nucleotide at position 31 of SEQ ID NO: 2416; or determining the identity of an allele at rs1945309 comprises determining the identity of the nucleotide at position 31 of SEQ ID NO:
 2417. 